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Novel Deletion in Exon 7 of Betaine Aldehyde Dehydrogenase 2(BADH2)
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作者 VAN Quoc Giang HUYNH Ky +5 位作者 NGUYEN Chau Thanh Tung NGUYEN Loc Hien NGUYEN van Manh NGUYEN Nhut Thanh VO Cong Thanh SWEE Keong Yeap 《Rice science》 SCIE CSCD 2023年第2期104-112,I0020-I0030,共20页
The fragrance of rice is one of the premium characteristics that breeders want to include in rice varieties due to the higher market value. Nucleotide deletions in exons 2(7 bp) and 7(8 bp) of Betaine Aldehyde Dehydro... The fragrance of rice is one of the premium characteristics that breeders want to include in rice varieties due to the higher market value. Nucleotide deletions in exons 2(7 bp) and 7(8 bp) of Betaine Aldehyde Dehydrogenase 2(BADH2) are associated with fragrance in rice. In this study, a new 13 bp deletion in exon 7 of the BADH2 gene was discovered in the Nang Thom Cho Dao(NTCD) variety, and the mutation has been closely related to the genetic background of indica subspecies through the Bayesian phylogenetic approach and haplotype network analysis of the 3 000 Rice Genomes Project. In addition, a set of functional markers(EX07-13F, EX07-13RN, and EX07-13RM) identified the 13 bp deletion only within NTCD(no amplified band) compared with both non-aromatic and other aromatic rice varieties(110 bp band). The deletion of 13 bases instead of 8 bases in exon 7 of BADH2 caused a premature stop codon, which down-regulated the expression of the BADH2 transcript while associated with up-regulation of OsP5CS and the high amount of 2-acetyl-1-pyrroline. It is potential to use the deletion in exon 7 of the BADH2 gene as a novel marker for adulteration and breeding of fragrant rice varieties, particularly for NTCD. 展开更多
关键词 novel deletion BADH2 fragrant rice functional marker
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De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family
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作者 Shuang Zhang Hai-Ming Yong +4 位作者 Gang Zou Mei-Jiao Ma Xue Rui Shang-Ying Yang Xun-Lun Sheng 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2023年第12期1952-1961,共10页
AIM:To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32.METHODS:A family with familial exudative vitreoretinopathy(FEVR)phenotype was i... AIM:To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32.METHODS:A family with familial exudative vitreoretinopathy(FEVR)phenotype was included in the study.Whole-exome sequencing(WES)was initially used to locate copy number variations(CNVs)on 7q31.31-31.32,but failed to detect the precise breakpoint.The long-read sequencing,Oxford Nanopore sequencing Technology(ONT)was used to get the accurate breakpoint which is verified by quantitative real-time polymerase chain reaction(QPCR)and Sanger Sequencing.RESULTS:The proband,along with her father and younger brother,were found to have a heterozygous 4.5 Mb CNV deletion located on 7q31.31-31.32,which included the FEVRrelated gene TSPAN12.The specific deletion was confirmed as del(7)(q31.31q31.32)chr7:g.119451239_123956818del.The proband exhibited a phase 2A FEVR phenotype,characterized by a falciform retinal fold,macular dragging,and peripheral neovascularization with leaking of fluorescence.These symptoms led to a significant decrease in visual acuity in both eyes.On the other hand,the affected father and younger brother showed a milder phenotype.CONCLUSION:The heterozygous CNV deletion located on 7q31.31-7q31.32 is associated with the FEVR phenotype.The use of long-read sequencing techniques is essential for accurate molecular diagnosis of genetic disorders. 展开更多
关键词 familial exudative vitreoretinopathy copy number variation copy number deletion TSPAN12 longread sequencing
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Deletion and Recovery Scheme of Electronic Health Records Based onMedical Certificate Blockchain
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作者 Baowei Wang Neng Wang +2 位作者 Yuxiao Zhang Zenghui Xu Junhao Zhang 《Computers, Materials & Continua》 SCIE EI 2023年第7期849-859,共11页
The trusted sharing of Electronic Health Records(EHRs)can realize the efficient use of medical data resources.Generally speaking,EHRs are widely used in blockchain-based medical data platforms.EHRs are valuable privat... The trusted sharing of Electronic Health Records(EHRs)can realize the efficient use of medical data resources.Generally speaking,EHRs are widely used in blockchain-based medical data platforms.EHRs are valuable private assets of patients,and the ownership belongs to patients.While recent research has shown that patients can freely and effectively delete the EHRs stored in hospitals,it does not address the challenge of record sharing when patients revisit doctors.In order to solve this problem,this paper proposes a deletion and recovery scheme of EHRs based on Medical Certificate Blockchain.This paper uses cross-chain technology to connect the Medical Certificate Blockchain and the Hospital Blockchain to real-ize the recovery of deleted EHRs.At the same time,this paper uses the Medical Certificate Blockchain and the InterPlanetary File System(IPFS)to store Personal Health Records,which are generated by patients visiting different medical institutions.In addition,this paper also combines digital watermarking technology to ensure the authenticity of the restored electronic medical records.Under the combined effect of blockchain technology and digital watermarking,our proposal will not be affected by any other rights throughout the process.System analysis and security analysis illustrate the completeness and feasibility of the scheme. 展开更多
关键词 Electronic health records cross-chain medical certificate blockchain data deletion and recovery
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The Clones’Struggle for Happiness under the Doomed Fate in Never Let Me Go
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作者 WANG Xue-juan 《Journal of Literature and Art Studies》 2023年第10期769-774,共6页
Japanese British writer Kazuo Ishiguro is one of the leading writers in contemporary British literature.He has always been committed to creating works with universal significance.Responsibility and destiny are themes ... Japanese British writer Kazuo Ishiguro is one of the leading writers in contemporary British literature.He has always been committed to creating works with universal significance.Responsibility and destiny are themes that run through his works.His novel Never Let Me Go tells a story of a group of clones growing up in the Hailsham,who are given the mission to donate organs at birth.So,there is no doubt that they will inevitably end their lives in the process of donating organs to human beings again and again.The tragic life of clones is determined by the motivation of human to create them. 展开更多
关键词 Kazuo Ishiguro Never Let Me Go clones FATE
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An Analysis on the Role Identification of Clones in Never Let Me Go
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作者 PENG Si-yu 《Journal of Literature and Art Studies》 2023年第12期946-953,共8页
With the guidance of Erikson’s identity theory,the article analyzes the clones’identity exploration through role identification in Never Let Me Go.It interprets the clones’puzzlement about their identity,and the pr... With the guidance of Erikson’s identity theory,the article analyzes the clones’identity exploration through role identification in Never Let Me Go.It interprets the clones’puzzlement about their identity,and the process of their identity quest as well as role identification.Through the specific analysis,it is concluded that the clones,represented by Kathy,Tommy and Ruth,have gained self-certainty and social identity by realizing the role identity as a“carer”and a“donor”,in the meantime,they have constructed their identity as social persons with souls like ordinary people.Furthermore,the findings shows that Never Let Me Go is actually a microcosm of human’s quest for identity.Ishiguro aims to express his meditation on human life in the novel:human life is a process of seeking self-identity and social roles,and then fulfilling the obligations of the roles,which confirms Ishiguro’s internationalism that he attempts to convey his contemplation on human existence through his works. 展开更多
关键词 Kazuo Ishiguro Never Let Me Go cloneS identity confusion role identity
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Abnormal Change of p53 Gene in Gastric and PrecancerousLesions and APC Gene Deletion in Gastric Carcinoma and Near Tissues 被引量:5
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作者 郝莹 张锦坤 +1 位作者 易粹琼 钱伟 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 1997年第2期75-78,共4页
p53 gene mutation (exon4, 5, 6, 7, 8 and intron6) in gastric cancer and precancerous lesions and p53 gene (exon4 and ontron6), APC gene deletion in gastric carcinomas were studied by PCR/SSCP and PCR/RFLP- Results sho... p53 gene mutation (exon4, 5, 6, 7, 8 and intron6) in gastric cancer and precancerous lesions and p53 gene (exon4 and ontron6), APC gene deletion in gastric carcinomas were studied by PCR/SSCP and PCR/RFLP- Results showed mutation rate of p53 in metaplasia, dysplasia and gastric carcinoma was 37. 5 % (3/8), 42. 11 % (8/19), 53. 33 (16/30) respectively- There was significant dif-ference among groups of metaplasia, dysplasia, cancer and normal controls. Noexon8 mutation was found in metaplasia and dysplasia, but 4 cases were found to have exon8 mutation in cancer group. It is suggested that exon8 mutation occurs at the late stage of gastric cancer, but exon 5, 6, 7 mutation occur in the course ofprecancerous lesion to cancer. Loss of heterozygosity (LOH) of exon4, intron6,APC was 47,37 % (9/19), 8. 73% (2/23), 16. 67 % (3/18) respectively. LOH of exon4 had something to do with poor differentiation, lymph node metastasis,depth of invasion- LOH of exon4 may be one of prognostic marker of gastric cancer. We are led to conclude that p53 gene mutation is an early event and perhaps work together with ras oncogene in gastric carcinogenesis 展开更多
关键词 p53 gene mutation p53 gene deletion APC gene deletion gastric cancer precancerous lesion
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Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome 被引量:9
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作者 Jin Ho Choe Jong Woo Kim Joong Shik Lee Ju Tae Seo 《Asian Journal of Andrology》 SCIE CAS CSCD 2007年第6期815-820,共6页
Aim: To evaluate the occurrence of classical azoospermia factor (AZF) deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome (KS). Methods: Blood samples were co... Aim: To evaluate the occurrence of classical azoospermia factor (AZF) deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome (KS). Methods: Blood samples were collected from 95 azoospermic subjects with KS (91 subjects had a 47,XXY karyotype and four subjects had a mosaic 47,XXY/46, XY karyotype) and a control group of 93 fertile men. The values of testosterone, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were measured. To determine the presence of Y chromosome microdeletions, polymerase chain reaction (PCR) of five sequence-tagged site primers (sY84, sY 129, sY 134, sY254, sY255) spanning the AZF region, was performed on isolated genomic DNA. Results: Y chromosome microdeletions were not found in any of the 95 azoosperrnic subjects with KS. In addition, using similar conditions of PCR, no microdeletions were observed in the 93 fertile men evaluated. The level of FSH in KS subjects was higher than that in fertile men (38.2 ± 10.3 mIU/mL vs. 5.4 ±2.9 mIU/mL, P 〈 0.001) and the testosterone level was lower than that in the control group (1.7 ±0.3 ng/mL vs. 4.3 ± 1.3 ng/mL, P 〈 0.001). Conclusion: Our data and review of the published literature suggest that classical AZF deletions might not play a role in predisposing genetic background for the phenotype of azoospermic KS subjects with a 47,XXY karyotype. In addition, routine screening for the classical AZF deletions might not be required for these subjects. Further studies including partial AZFc deletions (e.g. gr/gr or b2/b3) are necessary to establish other mechanism underlying severe spermatogenesis impairment in KS. 展开更多
关键词 Y chromosome chromosome deletion Klinefelter syndrome AZOOSPERMIA
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The CRISPR/Cas9 induces large genomic fragment deletions of MSTN and phenotypic changes in sheep 被引量:8
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作者 DING Yi ZHOU Shi-wei +7 位作者 DING Qiang CAI Bei ZHAO Xiao-e ZHONG Shu JIN Miao-han WANG Xiao-long MA Bao-hua CHEN Yu-lin 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2020年第4期1065-1073,共9页
The CRISPR/Cas9 system has been extensively used to engineer genetic loci for the generation of knockouts, insertions, and point mutations in animal models. However, many mutations that have been reported in animals a... The CRISPR/Cas9 system has been extensively used to engineer genetic loci for the generation of knockouts, insertions, and point mutations in animal models. However, many mutations that have been reported in animals are small insertions or deletions. This study used the CRISPR/Cas9 system to induce large DNA fragment deletions in MSTN via three guide RNAs in sheep. This successfully achieved the precise gene editing of the ovine MSTN gene by injecting both Cas9 m RNA and sg RNAs into embryos at the one-cell stage. Of 10 edited animals, 3 animals(30%) exhibited large genomic fragment deletions(~5 kb). Furthermore, the body weights of these 3 animals were significantly different(P0<0.0001, P15=0.001, P30=0.005, P60=0.027) between lambs with large deletions and wildtype lambs. In addition, the edited lambs were also significantly different(P0<0.0001, P15<0.0001, P30=0.002, P60=0.011) compared with wildtype. These results suggest that the generated MSTN knockout sheep is a reliable and effective animal model for further study. Furthermore, this method is time-and labor-saving, and efficient for the creation of animal models for agriculture, biology, and medicine. 展开更多
关键词 CRISPR/Cas9 SHEEP MSTN LARGE deletion genetic engineering
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Physical Location of the Rice Pi-5(t), Glh and RTSV Genes by ISH of BAC Clones 被引量:24
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作者 Yan Huimin, Song Yunchun, Li Lijia, Bi Xuezhi, Fu Binying(College of Life Sciences, Wuhan University, Wuhan 430072, China) 《Wuhan University Journal of Natural Sciences》 EI CAS 1998年第2期226-230,共5页
Mapping of low or single-copy sequences on plant chromosomes has proven difficult because of very low frequency of signal detection. Rice BAC library is being used widely in rice genome research due to its distinctive... Mapping of low or single-copy sequences on plant chromosomes has proven difficult because of very low frequency of signal detection. Rice BAC library is being used widely in rice genome research due to its distinctive advantages over other library systems. In this study, two biotin-labeled rice BAC clones closely linked to a rice blast resistance, green leafhopper resistance and tungro spherical virus resistance gene,Pi-5(t), Glh, RTSV, werein situ hybridized to rice chromosomes. They were located on the long arm and short arm of chromosome 4 with FL value of 40%and 100%respectively. The frequency of signal detection reached 46.8%and 59.2%. The signal location were consistent with the selective marker on rice saturated molecular map. The results demonstrated the advantages to locate BAC clones to chromosomes byin situ hybridization and will facilitate the rice low or single-copy gene location by using the BAC library. 展开更多
关键词 Key words BAC clone biotin labeling in situ hybridization
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Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia 被引量:6
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作者 Han-Sun Chiang Shauh-Der Yeh +3 位作者 Chien-Chih Wu Boo-Chung Huang Hui-Ju Tsai Chia-Lang Fang 《Asian Journal of Andrology》 SCIE CAS CSCD 2004年第4期369-375,共7页
Aim: To review the accumulated 30 patients with different area of Y chromosome microdeletions, focusing on their correlation with the clinical and pathological findings. Methods: A total of 334 consecutive infertile m... Aim: To review the accumulated 30 patients with different area of Y chromosome microdeletions, focusing on their correlation with the clinical and pathological findings. Methods: A total of 334 consecutive infertile men with azoospermia (218 patients) and severe oligoasthenospermia (116 patients) were screened. Complete physical and endocrinological examinations, general chromosome study and multiplex polymerase chain reaction assay to evaluate the Y chromosome microdeletion were performed. Ten patients received testicular biopsy. Then the clinical and pathological findings were analyzed with reference to the areas of Y chromosome microdeletion. Results: There is a decline of the percentage of sperm appearing in semen in the group that the gene deletion region from AZFc to AZFb. The clinical evidence of the impairment (decreased testicular size and elevated serum FSH) is also relevantly aggravated in this group. However, the pathology of testicular biopsy specimen was poorly correlated with the different deletion areas of the Y chromosome, which may be due to the limited number of specimens. Conclusion: The clinical correlation of spermatogenic impairment to the different AZF deletion regions may provide the information for the infertile couples in pre-treatment counseling. 展开更多
关键词 chromosome deletion male infertility azoospermia factor AZOOSPERMIA OLIGOASTHENOSPERMIA Y chromosome
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DAZ1/DAZ2 cluster deletion mediated by gr / gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men 被引量:3
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作者 Yuan Yang Cui-Ying Xiao +3 位作者 Zhou-Cun A Si-Zhong Zhang Xiang Li Si-Xiao Zhang 《Asian Journal of Andrology》 SCIE CAS CSCD 2006年第2期183-187,共5页
Aim: To explore the possible effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c (AZFc) region was analyzed in 3... Aim: To explore the possible effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c (AZFc) region was analyzed in 346 normozoospermic men. Methods: Three DAZ single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined with polymerase chain reaction (PCR)-restriction fragment length polymorphism and routine PCR. Results: Five (1.4%) of the normozoospermic men were found to have deletion of grlgr-DAZ1/DAZ2. None of the men were found to have b2/b4--entire DAZ deletion. Conclusion: The presence of grlgr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men. (Asian J Androl 2006 Mar; 8: 183-187) 展开更多
关键词 azoospermia factor c deleted in azoospermia gene deletion normozoospermia
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Novel approach to identifying the hepatitis B virus pre-S deletions associated with hepatocellular carcinoma 被引量:5
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作者 Zhi-Mei Zhao Yan Jin +7 位作者 Yu Gan Yu Zhu Tao-Yang Chen Jin-Bing Wang Yan Sun Zhi-Gang Cao Geng-Sun Qian Hong Tu 《World Journal of Gastroenterology》 SCIE CAS 2014年第37期13573-13581,共9页
AIM: To develop a novel non-sequencing method for the detection of hepatitis B virus(HBV) pre-S deletion mutants in HBV carriers.METHODS: The entire region of HBV pre-S1 and pre-S2 was amplified by polymerase chain re... AIM: To develop a novel non-sequencing method for the detection of hepatitis B virus(HBV) pre-S deletion mutants in HBV carriers.METHODS: The entire region of HBV pre-S1 and pre-S2 was amplified by polymerase chain reaction(PCR). The size of PCR products was subsequently determined by capillary gel electrophoresis(CGE). CGE were carried out in a PACE-MDQ instrument equipped with a UV detector set at 254 nm. The samples were separated in 50 μm ID eCAP Neutral Coated Capillaries using a voltage of 6 kV for 30 min. Data acquisition and analysis were performed using the 32 Karat Software. A total of114 DNA clones containing different sizes of the HBV pre-S gene were used to determine the accuracy of the CGE method. One hundred and fifty seven hepatocellular carcinoma(HCC) and 160 non-HCC patients were recruited into the study to assess the association between HBV pre-S deletion and HCC by using the newly-established CGE method. Nine HCC cases with HBV pre-S deletion at the diagnosis year were selected to conduct a longitudinal observation using serial serum samples collected 2-9 years prior to HCC diagnosis.RESULTS: CGE allowed the separation of PCR products differing in size > 3 bp and was able to identify 10% of the deleted DNA in a background of wild-type DNA. The accuracy rate of CGE-based analysis was 99.1% compared with the clone sequencing results. Using this assay, pre-S deletion was more frequently found in HCC patients than in non-HCC controls(47.1% vs 28.1%, P < 0.001). Interestingly, the increased risk of HCC was mainly contributed by the short deletion of pre-S. While the deletion ≤ 99 bp was associated with a 2.971-fold increased risk of HCC(95%CI: 1.723-5.122, P < 0.001), large deletion(> 99 bp) did not show any association with HCC(P = 0.918, OR = 0.966, 95%CI: 0.501-1.863). Of the 9 patients who carried pre-S deletions at the stage of HCC, 88.9%(8/9) had deletions 2-5 years prior to HCC, while only 44.4%4(4/9) contained such deletions 6-9 years prior to HCC.CONCLUSION: CGE is a sensitive approach for HBV pre-S deletion analysis. Pre-S deletion, especially for short DNA fragment deletion, is a useful predictive marker for HCC. 展开更多
关键词 HEPATITIS B virus Pre-S deletion CAPILLARY gel ele
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Angiotensin-converting Enzyme Gene Insertion/Deletion Polymorphism in Children with Henoch-Schonlein Purpua Nephritis 被引量:17
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作者 周建华 田雪飞 徐钦儒 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2004年第2期158-161,共4页
This study investigated the relationship between angiotensin-converting enzyme (ACE) gene insertion/deletion polymorphism and the occurrence, severity, prognosis of HSPN. The polymorphism of ACE gene in 103 HSPN case... This study investigated the relationship between angiotensin-converting enzyme (ACE) gene insertion/deletion polymorphism and the occurrence, severity, prognosis of HSPN. The polymorphism of ACE gene in 103 HSPN cases and 100 healthy children was studied by using the polymerase chain reactions (PCR). Its relation to the clinical manifestation, pathological classification and prognosis of HSPN was analyzed accordingly. The results showed that: (1) there was a significantly higher frequency for DD genotype in HSPN children (P<0.01); (2) DD genotype was more frequently seen in HSPN children with gross hematuria and massive proteinuria (P<0.05), while DI genotype was more common in HSPN children group with renal insufficiency (P<0.05); (3) although mesangial proliferative lesion was most frequently observed in 21 biopsied HSPN children, and DD genotype frequency was still higher in children with severe pathology (Class Ⅲ Ⅳ); (4)II genotype was significantly frequent in HSPN children with complete remission in the follow-up of 32 HSPN children. It was concluded that the deletion allele of ACE gene might play a role, at least to some extent, in the occurrence, deterioration and progression in juvenile HSPN. 展开更多
关键词 angiotensin-converting enzyme gene insertion/deletion polymorphism Henoch-Schonlein purura nephritis children
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Hepatitis B virus pre S1 deletion is related to viral replication increase and disease progression 被引量:5
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作者 Seoung-Ae Lee Ki-Jeong Kim +3 位作者 Hong Kim Won-Hyuk Choi Yu-Sub Won Bum-Joon Kim 《World Journal of Gastroenterology》 SCIE CAS 2015年第16期5039-5048,共10页
AIM:To investigate the clinical implications of hepatitis B virus(HBV) pre S1 deletion.METHODS:We developed a fluorescence resonance energy transfer-based real-time polymerase chain reaction(RT-PCR) that can detect fo... AIM:To investigate the clinical implications of hepatitis B virus(HBV) pre S1 deletion.METHODS:We developed a fluorescence resonance energy transfer-based real-time polymerase chain reaction(RT-PCR) that can detect four genotypes(wild type, 15-bp, 18-bp and 21-bp deletion).The PCR method was used in two cohorts of Korean chronic HBV subjects with genotype C infections.Cohort Ⅰ included 292 chronic HBV subjects randomly selected from Cheju National University Hospital(Jeju, South Korea) or Seoul National University Hospital(Seoul, South Korea), and cohort Ⅱ included 90 consecutive chronic HBV carriers recruited from Konkuk University Hospital(Seoul, South Korea); the cohort Ⅱ patients did not have hepatocellular carcinoma or liver cirrhosis.RESULTS:The method proposed in this study identified 341 of 382 samples(89.3%).Deletion variants were identified in 100(29.3%) of the 341 detected samples.In both cohorts, the subjects with deletions had a significantly higher Hepatitis B virus e antigen(HBe Ag)-positive seroprevalence [cohort Ⅰ, wild(51.0%) vs deletion(75.0%), P < 0.001; cohort Ⅱ, wild(69.2%) vs deletion(92.9%), P = 0.002] and higher HBV DNA levels [cohort Ⅰ, wild(797.7 pg/m L) vs deletion(1678.9 pg/m L), P = 0.013; cohort Ⅱ, wild(8.3 × 108 copies/m L) vs deletion(2.2 × 109 copies/m L), P = 0.049], compared to subjects with wild type HBV.CONCLUSION:HBV genotype C pre S1 deletion may affect disease progression in chronic HBV subjects through an extended duration of HBe Ag seropositive status and increased HBV replications. 展开更多
关键词 HEPATITIS B VIRUS PRES1 start CODON deletion HEPATITIS B VIRUS e ANTIGEN Hepatocellular carcinoma Genotype C
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Serum LDH level may predict outcome of chronic lymphocytic leukemia patients with a 17p deletion: a retrospective analysis of prognostic factors in China 被引量:6
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作者 Heng Li Wenjie Xiong +8 位作者 Huimin Liu Shuhua Yi Zhen Yu Wei Liu Rui Lyu Tingyu Wang Dehui Zou Zengjun Li Lugui Qiu 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2017年第2期156-165,共10页
Objective: This study aims to evaluate the natural history of patients with chronic lymphocytic leukemia (CLL) and a 17p deletion (17p-) and identify the predictive factors within this subgroup. Methods: The sam... Objective: This study aims to evaluate the natural history of patients with chronic lymphocytic leukemia (CLL) and a 17p deletion (17p-) and identify the predictive factors within this subgroup. Methods: The sample of patients with CLL were analyzed by fluorescence in situ hybridization for deletions in chromosome bands 1 lq22, 13q14 and 17p13; trisomy of bands 12q13; and translocation involving band 14q32. The data from 456 patients with or without a 17p- were retrospectively collected and analyzed. Results: The overall response rate (ORR) in patients with a 17p- was 56.9%, and patients with a high percentage of 17p- (defined as more than 25% of cells harbouring a 17p-) had a lower ORR. The median overall survival (OS) in patients with a 17p- was 78.0 months, which was significantly shorter than the OS in patients without this genetic abnormality (median 162.0 months, P〈0.001). Within the subgroup with a 17p-, the progression-free survival was significantly shorter in patients at Binet stage B-C and patients with elevated lactate dehydrogenase (LDH), B symptoms, unmutated IGHVand a high percentage of 17p-. Conclusions: These results indicated that patients with a 17p- CLL have a variable prognosis that might be predicted using simple clinical and laboratory characteristics. 展开更多
关键词 17p deletion chronic lymphocytic leukemia (CLL) fluorescent in situ hybridization (FISH) del 17pin CLL
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Effect of high-molecular-weight glutenin subunit deletion on soft wheat quality properties and sugar-snap cookie quality estimated through near-isogenic lines 被引量:13
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作者 ZHANG Xiao ZHANG Bo-qiao +7 位作者 WU Hong-ya LU Cheng-bin Lü Guo-feng LIU Da-tong LI Man JIANG Wei SONG Gui-hua GAO De-rong 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2018年第5期1066-1073,共8页
High-molecular-weight glutenin subunits(HMW-GSs) play a critical role in determining the viscoelastic properties of wheat dough. The HMW-GSs are encoded by Glu-A1, Glu-B1, and Glu-D1 loci on the long arms of chromos... High-molecular-weight glutenin subunits(HMW-GSs) play a critical role in determining the viscoelastic properties of wheat dough. The HMW-GSs are encoded by Glu-A1, Glu-B1, and Glu-D1 loci on the long arms of chromosomes 1A, 1B, and 1D, respectively. In the present study, four near-isogenic lines with different HMW-GS deletions and compositions at the Glu-A1 and Glu-D1 loci in Yangmai 18 background were used for quality analysis. Deletion in Glu-D1 showed much weaker gluten quality and dough strength than null Glu-A1 genotype and wild genotype(WT), based on the measurements of sodium dodecyl sulfate(SDS)-sedimentation, lactic acid solvent retention capacity(SRC), gluten index, development time, stability time, and alveograph P and L values. The deletion of Glu-D1 did not significantly affect grain hardness, grain protein content, water SRC, sodium carbonate SRC, and sucrose SRC. Double null genotype in Glu-A1 and Glu-D1 and single null genotype in Glu-D1 showed significantly higher cookie diameter, crispness, and lower cookie height compared with single null genotype in Glu-A1 and WT. These indicate that the null Glu-D1 genotype is useful for improvement of biscuit quality, and use of this germplasm would be a viable strategy to develop new wheat varieties for biscuit processing. 展开更多
关键词 wheat HMW-GS deletion near-isogenic lines cookie quality
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Protective Roles of α-lipoic Acid in Rat Model of Mitochondrial DNA4834bp Deletion in Inner Ear 被引量:2
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作者 彭炜 胡钰娟 +4 位作者 钟毅 陈蓓 孙宇 杨阳 孔维佳 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2010年第4期514-518,共5页
The protective roles of α-lipoic acid in the rat model of mitochondrial DNA (mtDNA) 4834bp deletion in inner ear were investigated. Forty female Wistar rats at 4 weeks of age were divided into four groups: group A (D... The protective roles of α-lipoic acid in the rat model of mitochondrial DNA (mtDNA) 4834bp deletion in inner ear were investigated. Forty female Wistar rats at 4 weeks of age were divided into four groups: group A (D-galactose group, n=10), group B (D-galactose+α-lipoic acid group, n=10), group C (α-lipoic acid group, n=10), and group D (control group, n=10). Auditory brainstem response (ABR) was used to detect the hearing threshold. Colorimetry was used to analyze activity of superoxide dismutase (SOD) and concentration of malondialdehyde (MDA). The percentage of mtDNA4834bp deletion in inner ear was identified by real-time PCR. There was no significant difference in ABR threshold shift among all groups. The percentage of mtDNA4834bp deletion in group A was higher than that in other groups, but there was no significant difference in percentage of mtDNA4834bp deletion among groups B, C, and D. The activity of SOD in group A was lower than that in other groups. The concentration of MDA in group A was higher than that in other groups. It was concluded that there was no significant hearing loss when the percentage of mtDNA4834bp deletion was lower than 12.5%. α-Lipoic acid could prevent the reactive oxygen species (ROS)-induced mtDNA4834bp deletion in inner ear of rats. 展开更多
关键词 α-lipoic acid D-GALACTOSE mitochondrial DNA common deletion PRESBYCUSIS
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Identification of superior clones by RAPD technology in Xanthoceras sorbifolia Bge. 被引量:4
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作者 GUAN Li-ping YANG Ting LI Na LI Bo-sheng LU Hai 《Forestry Studies in China》 CAS 2010年第1期37-40,共4页
It is very important to select and identify superior Xanthoceras sorbifolia Bge. trees for purposes of breeding and exploration. For our study, we selected superior X. sorbifolia trees using RAPD (random amplificatio... It is very important to select and identify superior Xanthoceras sorbifolia Bge. trees for purposes of breeding and exploration. For our study, we selected superior X. sorbifolia trees using RAPD (random amplification of polymorphic DNA) technology. The results show that certain specific amplification bands emerged with significantly different frequencies between superior and non-superior trees. The 1400-bp band of No. 2121 primer emerged in the superior trees at a frequency 2.4 times that of the non-superior trees and the 600-bp band of No. 2153 primer in the non-superior trees at a frequency 2.5 times that of the superior trees There were very significant differences between the superior and non-superior trees. The frequency of the 1600-bp band of No. 1161 primer was the same in both kinds of trees, but significant differences were observed in point frequency (the frequency of the superior trees is 1,4 times that of the non-superior trees). These bands can be used as important targets to distinguish between superior and non-superior trees. The use of a combination of amplified bands simultaneously can play a guiding role in the selection of superior X. sorbifolia trees. 展开更多
关键词 Xanthoceras sorbifolia Bge. superior clones RAPD technology
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Challenge to overcome: Nonstructural protein 5A-P32 deletion in direct-acting antiviral-based therapy for hepatitis C virus 被引量:2
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作者 Ken Sato Toshio Uraoka 《World Journal of Gastroenterology》 SCIE CAS 2018年第38期4304-4310,共7页
Interferon(IFN)-based therapy for hepatitis C virus(HCV) infection has recently been replaced by IFNfree direct-acting antiviral(DAA)-based therapy, which has been established as a 1^(st) line therapy with high effica... Interferon(IFN)-based therapy for hepatitis C virus(HCV) infection has recently been replaced by IFNfree direct-acting antiviral(DAA)-based therapy, which has been established as a 1^(st) line therapy with high efficacy and tolerability due to its reasonable safety profile. Resistance-associated substitutions(RASs) have been a weakness of DAA-based therapy. For example, combination therapy with daclatasvir and asunaprevir(DCV/ASV) is less effective for HCV genotype 1-infected patients with Y93H as a nonstructural protein 5A RAS. However, the problem regarding RASs has been gradually overcome with the advent of recently developed DAAs, such as sofosbuvir-based regimens or combination therapy with glecaprevir and pibrentasvir. Despite the high efficiency of DAA-based therapy, some cases fail to achieve viral eradication. P32 deletion, an NS5A RAS, has been gradually noticed in patients with DCV/ASV failure. P32 deletion has been sporadically reported and the prevalence of this RAS has been considered to be low in patients with DCV/ASV failure. Thus, the picture of P32 deletion has not been fully evaluated. Importantly, currently-commercialized DAA-based combination therapy was not likely to be effective for patients with P32 deletion. Exploring and overcoming this RAS is essential for antiviral therapy for chronic hepatitis C. 展开更多
关键词 Chronic HEPATITIS C Direct-acting ANTIVIRALS Resistant-associated substitution P32 deletion Nonstructural protein 5A
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Genetic variation in growth traits and stem–branch characteristics and their relationships to Eucalyptus clones 被引量:2
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作者 Shijun Wu Zhaohua Lu +3 位作者 Jianmin Xu Guangchao Chen Yingan Zhu Guangyou Li 《Journal of Forestry Research》 SCIE CAS CSCD 2015年第4期957-962,共6页
Eucalyptus has become an important genus in China because it displays adaptability to a wide range of site conditions and produces pulp wood and veneer on short rotations. The aim of this study was to estimate genetic... Eucalyptus has become an important genus in China because it displays adaptability to a wide range of site conditions and produces pulp wood and veneer on short rotations. The aim of this study was to estimate genetic parameters and relationships and consider impli- cations for development of clonal forestry. We assessed growth traits, stem-branch characteristics, crown diameter and height of fresh branch for 20 Eucalyptus hybrid clones in China measured at the age of 44 months. Analysis of variance showed that there were significant differences in growth traits, height of fresh branch and stem straightness among clones. Significant differences in height, volume, crown diameter, height of fresh branch and branch size among replicates were also recorded. Coefficients of vari- ation ranged from 9.84 to 28.54 % for growth traits, 12.03 to 17.25 % for stem-branch characteristics, 18.26 % for crown diameter and 11.73 % for height of fresh branch. Estimates of repeatabilities for height, diameter at breastheight over bark, volume, crown diameter, height of fresh branch, stem straightness and branch size at clone mean level were 0.86, 0.80, 0.80, 0.54, 0.85, 0.77 and 0.44 respectively. Diameter at breast height over bark and height had strongly positive phenotypic and genotypic correlations with volume, ranging from 0.96 to 1.00. The positive genotypic and phenotypic correlations between growth traits and other studied traits suggested that fast growing clones always had bigger crown diameter, higher height of fresh branch, straighter stems and relatively smaller branches. 展开更多
关键词 Multiple comparison Clonal variation Genotypic and phenotypic correlations Eucalyptus clones
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