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Identification of SSR markers linked to the abscission of cotton boll traits and mining germplasm in Cotton 被引量:1
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作者 SHUI Guangling LIN Hairong +9 位作者 MA Xiaomei ZHU Bo HAN Peng AINI Nurimanguli GUO Chunping WU Yuanlong PAN Zhenyuan YOU Chunyuan SONG Guoli NIE Xinhui 《Journal of Cotton Research》 CAS 2024年第2期177-187,共11页
Background Cotton is an economically important crop.It is crucial to find an effective method to improve cotton yield,and one approach is to decrease the abscission of cotton bolls and buds.However,the lack of knowled... Background Cotton is an economically important crop.It is crucial to find an effective method to improve cotton yield,and one approach is to decrease the abscission of cotton bolls and buds.However,the lack of knowledge of the genetic and molecular mechanisms underlying cotton boll abscission traits has hindered genetic improvements.Results Pearson’s correlation analysis revealed a significant positive correlation between boll abscission rates 1(AR1)and boll abscission rates 2(AR2).A genome-wide association study was conducted on 145 loci that exhibited high polymorphism and were uniformly distributed across 26 chromosomes(pair).The study revealed 18,46,and 62 markers that were significantly associated with boll abscission,fiber quality,and yield traits(P<0.05),explaining 1.75%–7.13%,1.16%–9.58%,and 1.40%–5.44%of the phenotypic variation,respectively.Notably,the marker MON_SHIN-1584b was associated with the cotton boll abscission trait,whereas MON_CGR5732a was associated with cotton boll abscission and fiber quality traits.Thirteen of the marker loci identified in this study had been previously reported.Based on phenotypic effects,six typical cultivars with elite alleles related to cotton boll abscission,fiber quality,and yield traits were identified.These cultivars hold great promise for widespread utilization in breeding programs.Conclusions These results lay the foundation for understanding the molecular regulatory mechanism of cotton boll abscission and provide data for the future improvement of cotton breeding. 展开更多
关键词 SSR Genome wide association studies ABSCISSION Favorable alleles COTTON Genetic improvement
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Single nucleotide polymorphism within chromosome 8q24 is associated with prostate cancer development in Saudi Arabia
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作者 Awad Elsid Osman Sahar Alharbi +1 位作者 Atif Ali Ahmed Asim Ali Elbagir 《Asian Journal of Urology》 CSCD 2024年第1期26-32,共7页
Objective: Genome-wide association studies have demonstrated that single nucleotide polymorphisms (SNPs) are important risk factors for the development of prostate cancer (PCa). Preliminary studies have suggested that... Objective: Genome-wide association studies have demonstrated that single nucleotide polymorphisms (SNPs) are important risk factors for the development of prostate cancer (PCa). Preliminary studies have suggested that the incidence of PCa in Saudi males is low but is probably familial or genetically related.Methods: To identify any possible association of SNP with PCa development in Saudi patients, we investigated a group of SNPs in Saudi PCa patients (n=85) and compared the outcomes to healthy normal controls (n=115) and nodular hyperplasia patients (n=120). DNA was extracted from paraffin-embedded formalin fixed tissue or whole blood from both patients’ groups and healthy control group. A total of thirteen SNPs were genotyped using TaqMan® minor groove binder polymerase chain reaction assay.Results: The rs16901979A, s629242T and rs1447295A alleles were found at significantly higher frequency in PCa patients than controls (p< 0.05). The rs16901979 CA genotype was found at significantly greater frequency in PCa patients than in healthy controls (43% vs. 14%, odds ratio=4.6, p=0.0001) and benign hyperplasia group (43% vs. 25%, odds ratio=2.2, p=0.009).Conclusion: Our study has highlighted the association of rs16901979 SNP with PCa in Saudi males. Such findings have important implications in the PCa diagnosis and in screening unaffected family members of Saudi patients. 展开更多
关键词 Prostatecancer SAUDI Singlenucleotide polymorphism ALLELE
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Mapping of powdery mildew resistance genes transferred to common wheat from wild emmer wheat revealed three functional Pm60 haplotypes
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作者 Wenxin Wei Nannan Liu +14 位作者 Shengnan Zhang Jing Zhang Wei Pan Xiaoming Xie Zuhuan Yang Junna Sun Jun Ma Zhaorong Hu Weilong Guo Qiaoling Luo Jingzhong Xie Fei He Yinghui Li Chaojie Xie Qixin Sun 《The Crop Journal》 SCIE CSCD 2024年第2期540-548,共9页
Powdery mildew(PM),caused by Blumeria graminis f.sp.tritici(Bgt),is one of the destructive wheat diseases worldwide.Wild emmer wheat(Triticum turgidum ssp.dicoccoides,WEW),a tetraploid progenitor of common wheat,is a ... Powdery mildew(PM),caused by Blumeria graminis f.sp.tritici(Bgt),is one of the destructive wheat diseases worldwide.Wild emmer wheat(Triticum turgidum ssp.dicoccoides,WEW),a tetraploid progenitor of common wheat,is a valuable genetic resource for wheat disease resistance breeding programs.We developed three hexaploid pre-breeding lines with PM resistance genes derived from three WEW accessions.These resistant pre-breeding lines were crossed with susceptible common wheat accessions.Segregations in the F2populations were 3 resistant:1 susceptible,suggesting a single dominant allele in each resistant parent.Mapping of the resistance gene in each line indicated a single locus on the long arm of chromosome 7A,at the approximate location of previously cloned Pm60 from T.urartu.Sanger sequencing revealed three different Pm60 haplotypes(Hap 3,Hap 5,and Hap 6).Co-segregating diagnostic markers were developed for identification and selection of each haplotype.The resistance function of each haplotype was verified by the virus-induced gene silencing(VIGS).Common wheat lines carrying each of these Pm60 haplotypes were resistant to most Bgt isolates and differences in the response arrays suggested allelic variation in response. 展开更多
关键词 Alleles Blumeria graminus Marker-assisted selection Molecular marker Triticum dicoccoides
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Apolipoprotein E4 interferes with lipid metabolism to exacerbate depression-like behaviors in 5xFAD mice
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作者 Yanju Gong Mingfeng Li +4 位作者 Min Liu Xinghan Wu Yanhong Li Chuan Qin Ling Zhang 《Animal Models and Experimental Medicine》 CAS CSCD 2024年第3期347-361,共15页
Background:Apolipoprotein E4(ApoE4)allele is the strongest genetic risk factor for late-onset Alzheimer's disease,and it can aggravate depressive symptoms in non-AD patients.However,the impact of ApoE4 on AD-assoc... Background:Apolipoprotein E4(ApoE4)allele is the strongest genetic risk factor for late-onset Alzheimer's disease,and it can aggravate depressive symptoms in non-AD patients.However,the impact of ApoE4 on AD-associated depression-l ike behaviors and its underlying pathogenic mechanisms remain unclear.Methods:This study developed a 5xFAD mouse model overexpressing human ApoE4(E4FAD).Behavioral assessments and synaptic function tests were conducted to explore the effects of ApoE4 on cognition and depression in 5xFAD mice.Changes in peripheral and central lipid metabolism,as well as the levels of serotonin(5-HT)andγ-aminobutyric acid(GABA)neurotransmitters in the prefrontal cortex,were examined.In addition,the protein levels of 24-dehydrocholesterol reductase/glycogen synthase kinase-3 beta/mammalian target of rapamycin(DHCR24/GSK3β/m TOR)and postsynaptic density protein 95/calmodulin-dependent protein kinase II/brain-derived neurotrophic factor(PSD95/CaMK-II/BDNF)were measured to investigate the molecular mechanism underlying the effects of ApoE4 on AD mice.Results:Compared with 5xFAD mice,E4FAD mice exhibited more severe depressionlike behaviors and cognitive impairments.These mice also exhibited increased amyloid-beta deposition in the hippocampus,increased astrocyte numbers,and decreased expression of depression-related neurotransmitters 5-HT and GABA in the prefrontal cortex.Furthermore,lipid metabolism disorders were observed in E4FAD,manifesting as elevated low-density lipoprotein cholesterol and reduced high-density lipoprotein cholesterol in peripheral blood,decreased cholesterol level in the prefrontal cortex,and reduced expression of key enzymes and proteins related to cholesterol synthesis and homeostasis.Abnormal expression of proteins related to the DHCR24/GSK3β/m TOR and PSD95/CaMK-II/BDNF pathways was also observed.Conclusion:This study found that ApoE4 overexpression exacerbates depressionlike behaviors in 5xFAD mice and confirmed that ApoE4 reduces cognitive function in these mice.The mechanism may involve the induction of central and peripheral lipid metabolism disorders.Therefore,modulating ApoE expression or function to restore cellular lipid homeostasis may be a promising therapeutic target for AD comorbid with depression.This study also provided a better animal model for studying AD comorbid with depression. 展开更多
关键词 5xFAD mice Alzheimer's disease ApoE4 allele depression like
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Genome-wide association with transcriptomics reveals a shade-tolerance gene network in soybean
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作者 Yanzhu Su Xiaoshuai Hao +11 位作者 Weiying Zeng Zhenguang Lai Yongpeng Pan Can Wang Pengfei Guo Zhipeng Zhang Jianbo He Guangnan Xing Wubin Wang Jiaoping Zhang Zudong Sun Junyi Gai 《The Crop Journal》 SCIE CSCD 2024年第1期232-243,共12页
Shade tolerance is essential for soybeans in inter/relay cropping systems.A genome-wide association study(GWAS)integrated with transcriptome sequencing was performed to identify genes and construct a genetic network g... Shade tolerance is essential for soybeans in inter/relay cropping systems.A genome-wide association study(GWAS)integrated with transcriptome sequencing was performed to identify genes and construct a genetic network governing the trait in a set of recombinant inbred lines derived from two soybean parents with contrasting shade tolerance.An improved GWAS procedure,restricted two-stage multi-locus genome-wide association study based on gene/allele sequence markers(GASM-RTM-GWAS),identified 140 genes and their alleles associated with shade-tolerance index(STI),146 with relative pith cell length(RCL),and nine with both.Annotation of these genes by biological categories allowed the construction of a protein–protein interaction network by 187 genes,of which half were differentially expressed under shading and non-shading conditions as well as at different growth stages.From the identified genes,three ones jointly identified for both traits by both GWAS and transcriptome and two genes with maximum links were chosen as beginners for entrance into the network.Altogether,both STI and RCL gene systems worked for shade-tolerance with genes interacted each other,this confirmed that shadetolerance is regulated by more than single group of interacted genes,involving multiple biological functions as a gene network. 展开更多
关键词 Soybean(Glycine max(L.)Merr.) SHADE-TOLERANCE Restricted two-stage multi-locus genomewide association study based on gene/allele sequence markers(GASM-RTM-GWAS) Shade-tolerance index(STI) Relative cell length(RCL) Transcriptome
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Envita’s Precision Cancer Care: 35-Fold Improvement in Response Rates
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作者 Sheba Goklany John C. Oertle III +19 位作者 Ronald Matthias Jr. Daniel Warren David Medina Rory Sears Robert Zieve Kendra Quart Christopher Aussems Jon Moma Shannon Miller Zach Poteet Conner Coffin Courtney Middleton Erika Ware Phylicia Zarnosky Julie Nowak Winlove Suasin Daniel Conway Chad Burk Ruth Tan-Lim Dino Prato 《Journal of Cancer Therapy》 2024年第4期99-120,共22页
New clinical approaches are imperative beyond the widely adopted National Comprehensive Cancer Network (NCCN) guidelines, utilized by prominent cancer institutions. Cancer is the leading cause of death among individua... New clinical approaches are imperative beyond the widely adopted National Comprehensive Cancer Network (NCCN) guidelines, utilized by prominent cancer institutions. Cancer is the leading cause of death among individuals younger than 85 years within the United States. Despite significant technological advances, including the expenditure of hundreds of billions, treatment outcomes and overall survival have not notably improved for most types of advanced cancer over the last several decades. Over the past 24 years, Envita Medical Centers has pioneered a unique form of personalized treatment approach for late-stage and refractory cancer patients, introducing groundbreaking innovations in the field. Our integrated algorithm utilizes advanced genomics, transcriptomics, and highly tailored immunotherapy, resulting in remarkable outcome improvements. This study presents Envita’s innovative personalized treatment algorithms and examines the response outcomes of 199 late-stage cancer patients treated at Envita Medical Centers over a two-year period. Compared to standard of care and palliative chemotherapy, Envita’s treatment demonstrated a remarkable 35-fold improvement in overall response rates (Figure 1). Moreover, 88% of the patients, the majority presenting with Stage 3 or 4 cancer, experienced a 43-fold improvement in quality of life with minimal side effects, as compared to standard of care chemotherapy and palliative care. This revolutionary success is attributed to Envita’s personalized therapeutic algorithms, which incorporate customized immunotherapy. Envita’s precision care approach has also achieved a 100% better response rate compared to over 65 global chemotherapy clinical trials with more than 2700 patients. The results from this study suggest that a wider utilization of Envita’s personalized approach can significantly benefit patients with late-stage and refractory cancer. 展开更多
关键词 Envita Medical Centers Late-stage Cancer Overall Response Rate Quality of Life Circulating Tumor Cells (CTCs) Mutant Allele Frequency (MAF) Precision Care
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Additive Effects of QTLs/Genes on Rice Grain Size Traits Revealed by Genetic Comparisons
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作者 HE Lei LIANG Wenhua +11 位作者 HU Jiang ZHAO Chunfang YAO Shu CHEN Tao ZHU Zhen ZHAO Qingyong LU Kai ZHAO Ling ZHOU Lihui QIAN Qian WANG Cailin ZHANG Yadong 《Rice science》 SCIE CSCD 2023年第3期171-175,I0002-I0013,共17页
Grain size is controlled by many QTLs and/or genes.Despite intensive study,the genetic interactions between these QTLs/genes remain largely unclear.We previously found that the japonica large-grain rice cultivar TD70 ... Grain size is controlled by many QTLs and/or genes.Despite intensive study,the genetic interactions between these QTLs/genes remain largely unclear.We previously found that the japonica large-grain rice cultivar TD70 with 1000-grain weight of 68.6 g carries superior alleles at the loci GW2,GS3,qGL3,GS5 and GW8,all of which are known to control grain size,while the indica rice variety Kasalath with 1000-grain weight of 19.1 g has normal alleles at these loci. 展开更多
关键词 CULTIVAR alleles TRAITS
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Characterization and distribution of novel alleles of the vernalization gene Vrn-A1 in Chinese wheat(Triticum aestivum L.) cultivars
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作者 Bo Zhang Yangyang Guo +3 位作者 Qiru Fan Ruibo Li Dongsheng Chen Xiaoke Zhang 《The Crop Journal》 SCIE CSCD 2023年第3期852-862,共11页
The ability of wheat to adapt to a wide range of environmental conditions is determined mostly by allelic diversity among genes regulating vernalization requirement.Vrn-1 is a major regulator of this requirement.In th... The ability of wheat to adapt to a wide range of environmental conditions is determined mostly by allelic diversity among genes regulating vernalization requirement.Vrn-1 is a major regulator of this requirement.In this study,two novel alleles of Vrn-A1 were discovered in Chinese cultivars:vrn-A1n was identified in two landraces,Jiunong 2 and Ganchun 16,and Vrn-A1o was detected in Duanhongmangmai.Both novel alleles showed a linked duplication in the promoter region.The common copy of these two alleles was identical to the recessive allele vrn-A1.Compared with the recessive allele vrn-A1,the other copy of vrn-A1n contained a 54-bp deletion in the promoter region and the distinct copy of Vrn-A1o contained an11-bp deletion in the promoter region.In segregating populations in the greenhouse under nonvernalizing(20–25°C)and long-day(16 h light)conditions,plants with the novel vrn-A1n allele did not head earlier than those with the recessive vrn-A1 allele.However,plants that were either homozygous or heterozygous for the novel Vrn-A1o allele headed earlier than those with the recessive vrn-A1 allele.To identify the novel allele with the small-sized product and facilitate screening,a DNA marker for the novel dominant allele Vrn-A1o was designed.Analysis of the novel-allele distribution showed that two cultivars carrying the vrn-A1n allele were dispersed in the northwestern spring wheat zone,and 12 cultivars carrying the dominant Vrn-A1o allele were widely distributed in the northwestern spring wheat zone,Xinjiang winter and spring wheat zone,Yellow and Huai River valley winter wheat zone,and QinghaiTibetan Plateau spring and winter wheat zone.Our study identifies useful germplasm and a DNA marker for wheat breeding. 展开更多
关键词 Common wheat Vernalization genes Novel alleles DNA marker Heading time
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Effect of high-molecular-weight glutenin subunit Dy10 on wheat dough properties and end-use quality
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作者 WANG Yan GUO Zhen-ru +16 位作者 CHEN Qing LI Yang ZHAO Kan WAN Yong-fang Malcolm JHAWKESFORD JIANG Yun-feng KONG Li PU Zhi-en DENG Mei JIANG Qian-tao LAN Xiu-jin WANG Ji-rui CHEN Guo-yue MA Jian ZHENG You-liang WEI Yu-ming QI Peng-fei 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2023年第6期1609-1617,共9页
High-molecular-weight glutenin subunits(HMW-GSs) are the most critical grain storage proteins that determine the unique processing qualities of wheat. Although it is a part of the superior HMW-GS pair(Dx5+Dy10), the c... High-molecular-weight glutenin subunits(HMW-GSs) are the most critical grain storage proteins that determine the unique processing qualities of wheat. Although it is a part of the superior HMW-GS pair(Dx5+Dy10), the contribution of the Dy10 subunit to wheat processing quality remains unclear. In this study, we elucidated the effect of Dy10 on wheat processing quality by generating and analyzing a deletion mutant(with the Dy10-null allele), and by elucidating the changes to wheat flour following the incorporation of purified Dy10. The Dy10-null allele was transcribed normally,but the Dy10 subunit was lacking. These findings implied that the Dy10-null allele reduced the glutenin:gliadin ratio and negatively affected dough strength(i.e., Zeleny sedimentation value, gluten index, and dough development and stability times) and the bread-making quality;however, it positively affected the biscuit-making quality. The incorporation of various amounts of purified Dy10 into wheat flour had a detrimental effect on biscuit-making quality. The results of this study demonstrate that the Dy10 subunit is essential for maintaining wheat dough strength. Furthermore, the Dy10-null allele may be exploited by soft wheat breeding programs. 展开更多
关键词 HMW-GS nonsense mutation Dy10-null allele end-use quality
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Allelic functional variation of FimH among Salmonella enterica subspecies
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作者 Xiamei Kang Jiaqi Chen +2 位作者 Xiao Zhou Abdelaziz Ed-Dra Min Yue 《Animal Diseases》 CAS 2023年第4期265-274,共10页
Salmonella enterica has a wide diversity,with numerous serovars belonging to six different subspecies with dynamic animal-host tropism.The FimH protein is the adhesin mediating binding to various cells,and slight amin... Salmonella enterica has a wide diversity,with numerous serovars belonging to six different subspecies with dynamic animal-host tropism.The FimH protein is the adhesin mediating binding to various cells,and slight amino acid discrepancy significantly affects the adherence capacities.To date,the general function of FimH variability across dif-ferent subspecies of Salmonella enterica has not been addressed.To investigate the biological functions of FimH among the six Salmonella enterica subspecies,the present study performed several assays to determine biofilm for-mation,Caenorhabditis elegans killing,and intestinal porcine enterocyte cell IPEC-J2 adhesion by using various FimH allele mutants.In general,allelic mutations in both the lectin and pilin domains of FimH could cause changes in bind-ing affnity,such as the N79S mutation.We also observed that the N79S variation in Salmonella Dublin increased the adhesive ability of IPEC-J2 cells.Moreover,a new amino acid substitution,T260M,within the pilin domain in one subspecies llb strain beneficial to binding to cells was highlighted in this study,even though the biofilm-forming and Caenorhabditis elegans-killing abilities exhibited no significant differences in variants.Combined with point muta-tions being a natural tendency due to positive selection in harsh environments,we speculate that allelic variation T26oM probably contributes to pathoadaptive evolution in Salmonella enterica subspecies llb. 展开更多
关键词 Salmonella subspecies FimH Amino acid substitution BINDING Allelic variation
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Large scale genetic landscape and population structure of Ethiopian sesame (Sesamum indicum L.) germplasm revealed through molecular marker analysis
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作者 Muez Berhe Jun You +4 位作者 Komivi Dossa Fetien Abay Abera Emmanuel Amponsah Adjei Yanxin Zhang Linhai Wang 《Oil Crop Science》 CSCD 2023年第4期266-277,共12页
Sesame(Sesamum indicum L.) plays a crucial role in Ethiopian agriculture,serving both subsistence and commercial purposes.However,our understanding of the extensive genetic diversity and population structure of Ethiop... Sesame(Sesamum indicum L.) plays a crucial role in Ethiopian agriculture,serving both subsistence and commercial purposes.However,our understanding of the extensive genetic diversity and population structure of Ethiopian sesame remains limited.To address this knowledge gap,we genotyped 368 Ethiopian sesame germplasms,categorizing into four distinct breeding groups:Accessions,landraces,improved varieties,and wild types,using a comprehensive set of 28 polymorphic markers,including 23 simple sequence repeat(SSR) and five Insertion-Deletion(InDel) markers.These markers ensured robust genomic representation,with at least two markers per linkage group.Our results unveiled substantial genetic diversity,identifying a total of 535 alleles across all accessions.On average,each locus displayed 8.83 alleles,with observed and expected heterozygosity values of 0.30 and 0.36,respectively.Gene Diversity and Polymorphic Information Content(PIC) were recorded at 0.37 and 0.35.The percentage of polymorphic loci varied significantly among breeding groups,ranging from8.00% to 82.40%,indicating high diversity in accessions(82.4%),moderate diversity in improved varieties(31.20%) and landraces(29.60%),and limited diversity in wild types(8.00).Analysis of Molecular Variance(AMOVA) results emphasized significant genetic differentiation among populations,with substantial diversity(P<0.001) within each population.Approximately 8% of the entire genetic diversity could be attributed to distinctions among populations,while the larger proportion of genetic diversity(92%) resided within each individual sesame population,showcasing heightened diversity within each group.Our study’s findings received support from both Bayesian clustering and Neighbor-joining(NJ) analysis,reaffirming the credibility of our genetic structure insights.Notably,Population structure analysis at its highest Δk value(k=2) revealed the existence of two primary genetic clusters,further subdivided into four sub-populations at k=4.Similarly,NJ analysis identified two prominent clusters,each displaying additional sub-clustering.In conclusion,our research provides a comprehensive understanding of genetic groups,subpopulations,and overall diversity within Ethiopian sesame populations.These findings underscore the significant genetic diversity and population structure within Ethiopian sesame germplasm collections.This genetic richness holds promise for breeding and conservation efforts,highlighting the importance of preserving genetic diversity to ensure adaptation to changing environments and meet the needs of farmers and consumers. 展开更多
关键词 Alleles Conservation Genetic diversity Molecular markers Population structure
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Juvenile Idiopathic Arthritis and Its HLA Association: A Study from Bangladesh
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作者 Mohammad Zahirul Islam Khan Md Asif Ali +3 位作者 Sazida Islam Kamrul Laila Mohammad Imnul Islam Shahana A. Rahman 《Open Journal of Pediatrics》 CAS 2023年第1期21-31,共11页
Background: HLA alleles may have association with overall JIA including specific sub-types. Determation of HLA DRB1, DPB1, DQA1, DQB1 and B27, may be helpful to diagnose JIA cases where diagnostic dilemma is present. ... Background: HLA alleles may have association with overall JIA including specific sub-types. Determation of HLA DRB1, DPB1, DQA1, DQB1 and B27, may be helpful to diagnose JIA cases where diagnostic dilemma is present. The aim of the study was to find out the association of HLA alleles with JIA and its subtypes. Methods: This cross sectional study was conducted in the department of Pediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, from April 2020 to March 2021. A total of 50 cases and 25 controls attending pediatric rheumatology clinic and pediatric OPD were enrolled in the study. Data were collected by a pre-designed questionnaire containing socio-demographic, clinical and laboratory parameters. HLA DR-B1, DQ-A1, DQ-B1 and B27 typing were done for the cases and controls from blood samples by polymerase chain reaction sequence specific primer (PCR-SSP) method. Data were analyzed by SPSS version 26. Frequency, percentage, chi square test and Fisher exact tests were done for statistical analysis. Results: HLA DR-B1_10 had significant positive association whereas HLA DR-B1_03 and B1_16 had negative association with overall JIA cases. Poly-articular JIA, oligo-articular JIA and ERA had association with HLA DRB1_01, B1_08 and B1_12 respectively. HLA DQA1-01 and A1_02 had positive association. However, DQ-A1_06 was negatively associated with JIA cases. Oligo JIA was positively associated with HLA DQ-A1_01, whereas poly JIA and ERA had association with A1_02. Though, HLA DQ_B1 had no association with overall JIA cases, analysis showed association of poly JIA with DQ-B1_04. Frequency of HLA DQ-B1_02 and 03 were higher among ERA cases, though not significant, but they had strong association with HLA B27. Conclusion: HLA associations were present with overall JIA and each sub-groups had different patterns of HLA associations including some protective roles. 展开更多
关键词 JIA TYPES HLA ALLELE
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Glutamate decarboxylase 1 gene polymorphisms are associated with respiratory symptoms in panic disorder
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作者 Zhi-Li Zou Jian Qiu +4 位作者 Xiao-Bo Zhou Yu-Lan Huang Jin-Yu Wang Bo Zhou Yuan Zhang 《World Journal of Psychiatry》 SCIE 2023年第7期435-443,共9页
BACKGROUND Genetic factors play an important role in the pathogenesis of panic disorder(PD).However,the effect of genetic variants on PD remains controversial.AIM To evaluate the associations between glutamate decarbo... BACKGROUND Genetic factors play an important role in the pathogenesis of panic disorder(PD).However,the effect of genetic variants on PD remains controversial.AIM To evaluate the associations between glutamate decarboxylase 1(GAD1)gene polymorphisms and PD risk and assess the effect of GAD1 gene polymorphisms on the severity of clinical symptoms in PD.METHODS We recruited 230 PD patients and 224 healthy controls in this study.All participants were assessed for anxiety and panic symptom severity using the Hamilton Anxiety Rating Scale(HAM-A)and Panic Disorder Severity Scale(PDSS).GAD1 gene polymorphisms(rs1978340 and rs3749034)were genotyped and assessed for allele frequencies.RESULTS There were no significant differences between cases and controls in the genotype distributions or allele frequencies of GAD1(rs1978340 and rs3749034).In addition,the effect of GAD1(rs1978340 and rs3749034)on PD severity was not significant.However,regarding respiratory symptoms,patients with the GAD1 rs1978340 A/A genotype had significantly higher scores than those with the A/G or G/G genotype.CONCLUSION Here,we showed that the A/A genotype of GAD1 rs1978340 was associated with increased severity of respiratory symptoms in patients with PD. 展开更多
关键词 Panic disorder Gene polymorphisms Respiratory symptoms Allele frequencies PATHOGENESIS Chinese population
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Characterization and map-based cloning of miniature2-m1, a gene controlling kernel size in maize 被引量:4
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作者 GUAN Hai-ying DONG Yong-bin +9 位作者 LU Shou-ping LIU Tie-shan HE Chun-mei LIU Chun-xiao LIU Qiang DONG Rui WANG Juan LI Yu-ling QI Shi-jun WANG Li-ming 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2020年第8期1961-1973,共13页
Kernel development plays an important role in determining kernel size in maize.Here we present the cloning and characterization of a maize gene,nitrate transporter1.5(NRT1.5),which controls small kernel phenotype by p... Kernel development plays an important role in determining kernel size in maize.Here we present the cloning and characterization of a maize gene,nitrate transporter1.5(NRT1.5),which controls small kernel phenotype by playing an important role in kernel development.A novel recessive small kernel mutant miniature2-m1(mn2-m1)was isolated from self-pollinated progenies of breeding materials.The mutant spontaneously showed small kernel character arresting both embryo and endosperm development at an early stage after pollination.Utilizing 21 polymorphic SSR markers,the mn2-m1 locus was limited to a 209.9-kb interval using 9176 recessive individuals of a BC1 segregating population from mn2-m1/B73.Only one annotated gene was located in this 209.9 kb region,Zm00001 d019294,which was predicted to encode nitrate transporter1.5(NRT1.5).Allelism tests confirmed that mn2-m1 was allelic to miniature2-m2(mn2-m2)and miniature2-710 B(mn2-710 B).The mn2-m1 and mn2-m2 alleles both had nucleotide deletions in the coding region resulting in premature termination,and the mn2-710 B allele had some missence mutations.Subcellular localization showed that Miniature 2(MN2)is localized in the plasma membrane.Quantitative real-time PCR(qRT-PCR)analysis revealed that the expression of MN2 and some genes involved in the basal endosperm transfer layer(BETL)and embryo surrounding region(ESR)development were affected in mn2-m1 seeds.These results suggested that MN2 plays an important role in maize seed development. 展开更多
关键词 miniature2-m1 nitrate transporter1.5 frame shift mutation allelism tests subcellular localization
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6株BALB/c系小鼠珠蛋白细微结构分析及其与基因变异类型的关系
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作者 宋树奎 胡开元 胡多禄 《实验动物与比较医学》 CAS 1992年第2期65-68,共4页
自Ranney和Glucksohn-Waelsh发现小鼠血红蛋白(Hb)电泳迁移率的种间遗传差异之后,Hutton等人又证明这种差异与β肽链的结构变化相关联。与此同时,Popp氏还认为,这是由于繁育等位基因(breeding unit allele)Hbb的不同而编码出不同氨基酸... 自Ranney和Glucksohn-Waelsh发现小鼠血红蛋白(Hb)电泳迁移率的种间遗传差异之后,Hutton等人又证明这种差异与β肽链的结构变化相关联。与此同时,Popp氏还认为,这是由于繁育等位基因(breeding unit allele)Hbb的不同而编码出不同氨基酸序列的β肽链。这些发现与见解为后来用Hb做模型蛋白,研究近交系小鼠的遗传特性提供了重要的理论与实验根据。通过遗传标志蛋白的结构分析,建立具有特征性标志的肽段图谱,能有效地窥测相应肽段基因的表观特征,为研究者提供许多有价值的遗传参数。本文报告上海地区6株BALB/c系小鼠Hb基因肽谱和遗传特性的实验结果。 展开更多
关键词 变异类型 BALB/C 遗传参数 遗传特性 BREEDING ALLELE 珠蛋白 遗传标志 特征性标志 电泳迁移率
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Association of genetic variants with diabetic nephropathy 被引量:22
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作者 Saliha Rizvi Syed Tasleem Raza Farzana Mahdi 《World Journal of Diabetes》 SCIE CAS 2014年第6期809-816,共8页
Diabetic nephropathy accounts for the most serious microvascular complication of diabetes mellitus. It is suggested that the prevalence of diabetic nephropathy will continue to increase in future posing a major challe... Diabetic nephropathy accounts for the most serious microvascular complication of diabetes mellitus. It is suggested that the prevalence of diabetic nephropathy will continue to increase in future posing a major challenge to the healthcare system resulting in increased morbidity and mortality. It occurs as a result of interaction between both genetic and environmental factors in individuals with both type 1 and type 2 diabetes. Genetic susceptibility has been proposed as an important factor for the development and progression of diabetic nephropathy, and various research efforts are being executed worldwide to identify the susceptibility gene for diabetic nephropathy. Numerous single nucleotide polymorphisms have been found in various genes giving rise to various gene variants which have been found to play a major role in genetic susceptibility to diabetic nephropathy. The risk of developing diabetic nephropathy is increased several times by inheriting risk alleles at susceptibility loci of various genes like ACE, IL, TNF-α, COL4A1, e NOS, SOD2, APOE, GLUT, etc. The identification of these genetic variants at a biomarker level could thus, allow the detection of those individuals at high risk for diabetic nephropathy which could thus help in the treatment, diagnosis and early prevention of the disease. The present review discusses about the various gene variants found till date to be associated with diabetic nephropathy. 展开更多
关键词 alleles susceptibility MICROVASCULAR GIVING PROGRESSION executed GENOTYPE INTRON BIOMARKER mortality
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The Effects of Different Sex-Linked Dwarf Variations on Chinese Native Chickens 被引量:8
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作者 OUYANG Jian-hua XIE Liang +4 位作者 NIE Qing-hua ZENG Hua PENG Zhi-jun ZHANG De-xiang ZHANG Xi-quan 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2012年第9期1500-1508,共9页
Variants in chicken growth hormone receptor (GHR) gene lead to sex-linked dwarf (SLD) chickens, but effects of different variants are distinct. In this study, 11 SLD chicken breeds or strains including 3 Chinese n... Variants in chicken growth hormone receptor (GHR) gene lead to sex-linked dwarf (SLD) chickens, but effects of different variants are distinct. In this study, 11 SLD chicken breeds or strains including 3 Chinese native breeds and 8 breeding strains were studied in order to investigate the effects of different sex-linked dwarf variations on growth performance. The results showed that there were three reasons which could lead to dwarfism in the 11 breeds or strains. Firstly, an about 1.7 kb deletion of growth hormone receptor (GHR) gene leads to dwarfism in Jiangxi dwarf chicken, strains GF24, GF26, N308, N309, and N310. Secondly, a T354C mutation in exon 5 of the GHR gene leads to dwarfism in strains N301 and N305. Thirdly, an unknown variant leads to dwarfism in Guizhou Yellow Dwarf chicken and Yixing Bantam chicken. In addition, all individuals of N303 had the 1.7 kb deletion of the GHR gene, and additionally, some of them also carried the T354C mutation. As far as the performance of individuals were compared among T354C homozygote, deletion homozygote, and heterozygote carrying both T354C and deletion, it was found that the T354C's impacts on body weight of Chinese chickens were maximum, the body weight of chickens with homozygote T354C was 92.12% of those with heterozygote, and the difference of the body weight between deletion homozygote and heterozygote was not significant. There was no significant difference of shank length among three genotypes. 展开更多
关键词 SLD chicken GHR dwarf allele phenotypic effect
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Genome-wide association study identifies favorable SNP alleles and candidate genes for waterlogging tolerance in chrysanthemums 被引量:11
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作者 Jiangshuo Su Fei Zhang +4 位作者 Xinran Chong Aiping Song Zhiyong Guan Weimin Fang Fadi Chen 《Horticulture Research》 SCIE 2019年第1期1463-1475,共13页
Chrysanthemums are sensitive to waterlogging stress,and the development of screening methods for tolerant germplasms or genes and the breeding of tolerant new varieties are of great importance in chrysanthemum breedin... Chrysanthemums are sensitive to waterlogging stress,and the development of screening methods for tolerant germplasms or genes and the breeding of tolerant new varieties are of great importance in chrysanthemum breeding.To understand the genetic basis of waterlogging tolerance(WT)in chrysanthemums,we performed a genome-wide association study(GWAS)using 92,811 single nucleotide polymorphisms(SNPs)in a panel of 88 chrysanthemum accessions,including 64 spray cut and 24 disbud chrysanthemums.The results showed that the average MFVW(membership function value of waterlogging)of the disbud type(0.65)was significantly higher than that of the spray type(0.55)at P<0.05,and the MFVW of the Asian accessions(0.65)was significantly higher than that of the European accessions(0.48)at P<0.01.The GWAS performed using the general linear model(GLM)and mixed linear model(MLM)identified 137 and 14 SNP loci related to WT,respectively,and 11 associations were commonly predicted.By calculating the phenotypic effect values for 11 common SNP loci,six highly favorable SNP alleles that explained 12.85—21.85%of the phenotypic variations were identified.Furthermore,the dosage-pyramiding effects of the favorable alleles and the significant linear correlations between the numbers of highly favorable alleles and phenotypic values were identified(r2=0.45;P<0.01).A major SNP locus(Marker6619-75)was converted into a derived cleaved amplified polymorphic sequence(dCAPS)marker that cosegregated with WT with an average efficiency of 78.9%.Finally,four putative candidate genes in the WT were identified via quantitative real-time PCR(qRT-PCR).The results presented in this study provide insights for further research on WT mechanisms and the application of molecular marker-assisted selection(MAS)in chrysanthemum WT breeding programs. 展开更多
关键词 BREEDING alleles CHRYSANTHEMUM
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Relationship between autoimmune hepatitis and HLA-DR4 and DRβ allelic sequences in the third hypervariable region in Chinese 被引量:6
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作者 Xiong Ma De-Kai Qiu Shanghai Institute of Digestive Disease,Shanghai Renji Hospital,Shanghai Second Medical University,Shanghai 200001,China 《World Journal of Gastroenterology》 SCIE CAS CSCD 2001年第5期718-721,共4页
AIM To analyze the association of HLA-DRBl with autoimmune hepatitis (AIH) in patients from China.``METHODS In .32 patients and 45 healthy controls,polymerase chain reaction amplification with sequencespecific primers... AIM To analyze the association of HLA-DRBl with autoimmune hepatitis (AIH) in patients from China.``METHODS In .32 patients and 45 healthy controls,polymerase chain reaction amplification with sequencespecific primers (PCR-SSP) was performed to examine the association of certain alleles or polymorphic sequences of HLA-DRB1 with AIH.``RESULTS HLA-DRB1 typing by PCFLSSP showed that DR4had a significantly increased frequency among patients with AIH versus healthy control (46.9% versus 20.8%;relative risk 3.35, P=0.014). In subtypes of DR4, there was a trend of increase in the gene frequency of DRB10405 in patients with AIH versus healthy controls (21.9%vs 6.3%, P=0.04, but Pc 0.08). In addition, asignificant increase was found in the alleles frequency encoding QRRAA from the third hyperpolymorphic region of DR4 in the patients with AIH (86.7% of DR4 positive patients vs 40.0% in DR4 positive controls, P 0.016, Pc =0.028. RR 9.75).``CONCLUSION AIH in Chinese is associated with HLADR4. There is a relationship between QRRAA sequence within the third hyperpolymorphic region of the DRB allele and AIH in Chinese. 展开更多
关键词 hepatitis autoimmune/immunology HLA-DR antigen/ genetics alleles sequence analysis POLYMERASE chain reaction
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Association of HLA-B Alleles With Human Immunodeficiency Virus Type 1 Infection in the Yi Ethnic Group in Sichuan Province 被引量:8
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作者 MING-YANXU KUN-XUEHONG +7 位作者 XIAO-LINGDENG JUNLI HONGPENG Yu-HuARUAN GUAN-MINGQIN HUIXING XIAO-HUXU ANDYI-MINGSHAO 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2004年第2期203-208,共6页
Objective To determine the distribution of HLA-B alleles in the Chinese Yi ethnic group and its association with HIV infection. Methods One hundred and six unrelated healthy HIV negative and 73 HIV positive Chinese Yi... Objective To determine the distribution of HLA-B alleles in the Chinese Yi ethnic group and its association with HIV infection. Methods One hundred and six unrelated healthy HIV negative and 73 HIV positive Chinese Yi ethnic individuals were typed by PCR-SSP. Results The frequency of alleles B*07, B*35, and B*46 were increased in HTV-1 -positive subjects, whereas the alleles B*55, B*44 and B*78 were absent in the HIV-infected persons studied. The B*46 allele was present in a significantly higher gene frequency among HIV-1-positive individuals (P=0.02, OR=3.32, 95% CI=1.13-9.78) compared with control subjects. Conclusion HLA-B*46 may be associated with its susceptibility to HIV-1 infections. 展开更多
关键词 HIV infections HLA-B alleles ASSOCIATION
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