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RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review
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作者 Jin Li Yi-Qun Hu +4 位作者 Hong-Bo Cheng Ting Wang Long-Hao Kuang Tao Huang Xiao-He Yan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第2期311-316,共6页
AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.MET... AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.METHODS:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result.Then we reviewed the characteristics of the patients reported with the same variant.RESULTS:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis fugax.The best corrected vision was 0.04 OD and 0.12 OS,respectively.The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye.Autofluorescence shows bilateral symmetrical hypo-autofluorescence.ERG revealed that the amplitudes of a-and b-wave were severely decreased.Multifocal ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was found.The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied.CONCLUSION:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported.The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease. 展开更多
关键词 RDH12 gene inherited retinal degeneration homozygous pathogenic variant clinical feature multi-mode imaging
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Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis
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作者 Shirin Farjadian Mozhgan Moghtaderi +1 位作者 Roberta Zuntini Simona Ferrari 《World Journal of Clinical Cases》 SCIE 2014年第8期395-397,共3页
Cystic fibrosis, a common autosomal recessive genetic disorder among Caucasians, is caused by defects in the transmembrane conductance regulatory(CFTR) gene. The analysis of CFTR gene mutations is useful to better cha... Cystic fibrosis, a common autosomal recessive genetic disorder among Caucasians, is caused by defects in the transmembrane conductance regulatory(CFTR) gene. The analysis of CFTR gene mutations is useful to better characterize the disease, and for preconceptional screening, prenatal and preimplantation genetic diagnosis. Here we report the results of a genetic analysis in a 16-year-old boy from southwestern Iran diagnosed as having cystic fibrosis in infancy based on gastrointestinal and pulmonary manifestations, with positive sweat chloride tests. He lacked both normal and mutant forms of the fragment corresponding to the F508 allele in initial genetic studies. Multiplex ligationdependent probe amplification-based testing revealed a homozygous deletion spanning exons 4 to 10 of the CFTR gene. We predict an in-frame deletion removing 373 amino acids based on our sequencing results. Determining CFTR gene mutations in patients and their family members would be helpful to prevent the occurrence of new cases, especially in populations in which consanguinity is common. 展开更多
关键词 CYSTIC fibrosis TRANSMEMBRANE CONDUCTANCE regulatory gene homozygous deletion
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Detection of Homozygous Deletions and Mutations in the CDKN2A Gene in Hydatidiform Moles
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作者 Jing Wang Shuying Wu +2 位作者 Ying Gu Yan Zhu Xiaowei Zhang 《Chinese Journal of Clinical Oncology》 CSCD 2008年第2期99-102,共4页
OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for h... OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause. 展开更多
关键词 hydatidiform mole CDKN2A gene homozygous deletion mutation.
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Iron Metabolism Abnormalities in Children with Homozygous Sickle Cell Disease in Brazzaville
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作者 Lucie Charlotte Ollandzobo Ikobo Hardy Maryse Ibovi Gataud +3 位作者 Steve Vassili Missambou Mandilou Olivia Firmine Galiba Atipo-Tsiba Rolf Iwandza Jean Robert Mabiala Babela 《Open Journal of Pediatrics》 CAS 2023年第3期394-407,共14页
Introduction: Sickle cell disease is the most common genetic disease in the world, particularly in sub-Saharan Africa. It is a protean condition with multiple complications including disturbed iron metabolism. Objecti... Introduction: Sickle cell disease is the most common genetic disease in the world, particularly in sub-Saharan Africa. It is a protean condition with multiple complications including disturbed iron metabolism. Objectives: To determine the prevalence of iron metabolism abnormalities in children with homozygous sickle cell disease, to describe the epidemiological, clinical and paraclinical characteristics of children with these abnormalities and to identify associated factors. Patients and Methods: This was a cross-sectional analytical study conducted over 9 months in the mother-child consultation unit of the Brazzaville University Hospital, the National Reference Centre for Sickle Cell Disease and the paediatric department of the Blanche Gomes mother-child hospital. It concerned children aged between 3 months and 15 years followed up for homozygous sickle cell disease. The study was based on a haemogram, iron metabolism test, LDH, transaminases and CRP. Results: The overall prevalence of iron metabolism abnomalities was 40.7%. Of the 145 children included, 35.9% had iron overload and 4.8% iron deficiency. Iron overload was associated with infections, undernutrition, iron supplementation and number of blood transfusions. Iron deficiency was not significantly associated with any factor but recurrent infections were relatively more frequent. Conclusion: Abnormalities of iron metabolism in sickle cell patients are relatively frequent, which justifies monitoring during follow-up for early detection and better management. . 展开更多
关键词 ANOMALIES METABOLISM Iron CHILD homozygous Sickle Cell Disease BRAZZAVILLE
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Development of homozygous tetraploid potato and whole genome doubling-induced the enrichment of H3K27ac and potentially enhanced resistance to cold-induced sweetening in tubers
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作者 Hongwei Guo Min Zhou +8 位作者 Guoyan Zhang Li He Caihong Yan Min Wan Jianjun Hu Wei He Deying Zeng Bo Zhu Zixian Zeng 《Horticulture Research》 SCIE CSCD 2023年第3期271-283,共13页
Polyploid plants typically display advantages on some agronomically important traits over their diploid counterparts.Extensive studies have shown genetic,transcriptomic,and epigenetic dynamics upon polyploidization in... Polyploid plants typically display advantages on some agronomically important traits over their diploid counterparts.Extensive studies have shown genetic,transcriptomic,and epigenetic dynamics upon polyploidization in multiple plant species.However,few studies have unveiled those alternations imposed only by ploidy level,without any interference from heterozygosity.Cultivated potato is highly heterozygous.Thus,in this study,we developed two homozygous autotetraploid lines and one homozygous diploid line in parallel from a homozygous diploid potato.We confirmed their ploidy levels using chloroplast counting and karyotyping.Oligo-FISH and genome re-sequencing validated that these potato lines are nearly homozygous.We investigated variations in phenotypes,transcription,and histone modifications between two ploidies.Both autotetraploid lines produced larger but fewer tubers than the diploid line.Interestingly,each autotetraploid line displayed ploidy-related differential expression for various genes.We also discovered a genomewide enrichment of H3K27ac in genic regions upon whole-genome doubling(WGD).However,such enrichment was not associated with the differential gene expression between two ploidies.The tetraploid lines may exhibit better resistance to cold-induced sweetening(CIS)than the diploid line in tubers,potentially regulated through the expression of CIS-related key genes,which seems to be associated with the levels of H3K4me3 in cold-stored tubers.These findings will help to understand the impacts of autotetraploidization on dynamics of phenotypes,transcription,and histone modifications,as well as on CIS-related genes in response to cold storage. 展开更多
关键词 homozygous doubling RESISTANCE
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Correlation between Pubertal Delay in Adolescents with Homozygous Sickle Cell Disease and Socio-Demographic, Clinical Factors
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作者 Nestor Ghislain Andzouana Mbamognoua John Claude Edzan +3 位作者 Farel Ongoth Elilie Mawa Judicael Kambourou Lydie Ocini Ngolet Henri Germain Monabeka 《Open Journal of Endocrine and Metabolic Diseases》 2023年第10期173-190,共17页
Introduction: Pubertal development is a process leading to the acquisition of reproductive capacities. Among the factors that inhibit pubertal development are chronic diseases including sickle cell anemia, which is a ... Introduction: Pubertal development is a process leading to the acquisition of reproductive capacities. Among the factors that inhibit pubertal development are chronic diseases including sickle cell anemia, which is a public health problem. Objectives: Describe the sociodemographic and clinical characteristics of adolescents with sickle cell disease. Report the prevalence of abnormalities of pubertal development. Identify associated factors that delay pubertal development. Patients and Methods: This was a multicenter analytical cross-sectional study over 7 months at the National Reference Center for Sickle Cell Disease and, at the Brazzaville University Hospital. It concerned adolescents with sickle cell disease aged between 10 to 19 years. The study focused on the sociodemographic characteristics of adolescents, the natural history of sickle cell anemia and the evaluation of secondary sexual characteristics using the Tanner classification. Nutritional status was assessed by calculating body mass index (BMI) and height/age and weight/age ratios. Results: Of the 347 adolescents included, the average age of the adolescents was 15.1 ± 2.5 years, 56.5% had normal puberty, 42.6% had delayed puberty and 0.9% had impuberty. The associated factors were under-nutrition with less than 3 meals/day (p = 0.0000), social status with more marked pubertal delay in orphans (p = 0.00127), more than 5 hospitalizations per year (p = 0.0013), pubertal delay was statistically significant in adolescents who had more than 3 vaso-occlusive crises (p = 0.0000), and those who had more than 5 blood transfusions since the discovery of the disease (p = 0.0127). Conclusion: The factors that hinder pubertal development in sickle cell patients are intrinsic (sickle cell anemia with its complications) and extrinsic (environmental: diet, social status). The appearance of secondary sexual characteristics is delayed on average by two years compared to the general population. 展开更多
关键词 Development Puberty ADOLESCENT Sickle Cell Disease homozygous BRAZZAVILLE
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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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Homozygous Hemoglobinosis CC: A Series of 3 Cases and a Review of the Literature
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作者 Sokhna Aïssatou Touré Moussa Seck +7 位作者 Mohamed Keita Alioune Badara Diallo Elimane Seydi Bousso Fatma Dieng Serigne Mourtalla Gueye Nata Dieng Blaise Felix Faye Saliou Diop 《Open Journal of Blood Diseases》 CAS 2023年第1期11-15,共5页
Hemoglobinosis C occurs mainly in Africa and America with a high frequency in West Africa. In Senegal, homozygous hemoglobinopathy CC constitutes a very rare profile of which only 3 cases are followed in the clinical ... Hemoglobinosis C occurs mainly in Africa and America with a high frequency in West Africa. In Senegal, homozygous hemoglobinopathy CC constitutes a very rare profile of which only 3 cases are followed in the clinical hematology department of Dakar. The 1<sup>st</sup> case is a 49-year-old female patient, with notion of 1<sup>st</sup> degree consanguinity, and a long history of abdominal pain who presented a poorly tolerated anemic syndrome and splenomegaly. The biological assessment showed moderate anemia (7.6 g/dL) with microcytic hypochromia and a CC profile (HbC = 99.2%;HbA2 = 0.8%) on hemoglobin electrophoresis. The second case was a 22-year-old female patient with a notion of 2<sup>nd</sup> degree consanguinity who presented a Chauffard triad. The haemogram showed mild anaemia (11 g/dL), microcytic and hypochromic. Hemoglobin electrophoresis confirmed a CC profile (HbC = 95.3%;HbA2 = 4.7%). The third patient was 27 years old, with a history of diffuse abdominal pain and 2<sup>nd</sup> degree consanguinity. The haemogram and haemoglobin electrophoresis confirmed the CC profile (HbC = 94.6%;HbA2 = 5.4%). The negativity of the Emmel test in front of this presentation suggestive of sickle cell disease means that this type of hemoglobinopathy is diagnosed late in our regions. We therefore recommend the systematic performance of hemoglobin electrophoresis in the presence of any chronic hemolytic anemia. 展开更多
关键词 Hemoglobinopathy homozygous CC Abdominal Pain Hemoglobin Electrophoresis Chauffard Triad
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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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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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门控心肌灌注显像预测纯合子家族性高胆固醇血症患者主要心脏不良事件的研究
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作者 焦建 董薇 +4 位作者 常智 张颖 李全 李珺奇 米宏志 《心肺血管病杂志》 CAS 2024年第6期623-628,共6页
目的:通过负荷+静息门控心肌灌注显像(gated myocardial perfusion imaging,G-MPI)评价纯合子家族性高胆固醇血症(homozygous familial hypercholesterolemia,HoFH)患者主要心脏不良事件(major adverse cardiovascular events,MACE)的... 目的:通过负荷+静息门控心肌灌注显像(gated myocardial perfusion imaging,G-MPI)评价纯合子家族性高胆固醇血症(homozygous familial hypercholesterolemia,HoFH)患者主要心脏不良事件(major adverse cardiovascular events,MACE)的预测价值。方法:对经临床和基因诊断确诊HoFH,在2010年6月至2022年3月,于我院行负荷+静息G-MPI检查的患者进行回顾性随访。图像分析采用17节段5分法,获得左心室心肌血流灌注及功能参数。随访患者MACE,采用Cox回归分析与MACE有关的预测因子。通过ROC分析预测因子的效能,采用Kaplan-Meier法和Log-rank检验比较不同组HoFH患者MACE发生率的差异。结果:共入选59例HoFH患者,中位随访时间6(4,9)年。随访期间20例(20/59,33.9%)患者出现MACE。G-MPI参数负荷灌注总积分(summed stress score,SSS)、静息灌注总积分(summed rest score,SRS)、总积分差值(summed difference score,SDS)、负荷左心室收缩末期容积(stress end-systolic volume,SESV)、负荷左心室射血分数(stress ejection fraction,SEF)、静息左心室收缩末期容积(rest end-systolic volume,RESV)、静息左心室射血分数(rest ejection fraction,REF)在MACE组与无MACE组,差异有统计学意义(P<0.05)。Cox回归分析显示SSS(HR=1.18,95%CI:1.088~1.279,P<0.001)是与HoFH患者出现MACE的独立预测因子。通过ROC分析确定预测HoFH患者出现MACE的SSS最佳截断值为5.5(AUC=0.813,95%CI:0.682~0.945,P<0.001),SSS≥5.5组MACE发生率明显高于SSS<5.5组(69.2%vs.15.0%,χ^(2)=27.085,P<0.001)。结论:负荷+静息G-MPI是对HoFH患者进行MACE评估的重要影像学手段,参数SSS是预测患者出现MACE的重要因素。 展开更多
关键词 纯合子家族性高胆固醇血症 门控 心肌灌注显像 主要心脏不良事件
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1例以高血压就诊的Williams-Beuren综合征的临床与遗传学分析
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作者 刘杰 袁涛 +5 位作者 王芳 赵雯娜 王文楠 李晓云 刘福颂 李荣 《青岛医药卫生》 2024年第4期303-307,共5页
目的通过分析1例Williams-Beuren综合征患者的临床特点及分子机制,提高心内科医师对该疾病的认识。方法应用高通量全外显子组检测、染色体拷贝数变异检测对患者进行病因学检查。结论染色体7q11.23区域25~27个相邻基因的缺失是WBS综合征... 目的通过分析1例Williams-Beuren综合征患者的临床特点及分子机制,提高心内科医师对该疾病的认识。方法应用高通量全外显子组检测、染色体拷贝数变异检测对患者进行病因学检查。结论染色体7q11.23区域25~27个相邻基因的缺失是WBS综合征的致病原因,导致了心血管及泌尿系畸形等复杂的临床表现。 展开更多
关键词 Williams-Beuren综合征 染色体缺失 高血压
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基于重测序的23份香菇种质资源全基因组序列分析
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作者 宋琳琳 陈红芝 +3 位作者 毋柳柳 李畅 孟丽 孔维丽 《中国瓜菜》 CAS 北大核心 2024年第3期28-34,共7页
为了对河南香菇主产区的主栽品种进行鉴定,并分析其遗传多样性,将河南主栽的23份香菇种质资源进行重测序,对单核苷酸多态性(single nucleotide polymorphism,SNP)和小片段插入缺失(insertion-deletion,InDel)等数据进行统计和分析,并基... 为了对河南香菇主产区的主栽品种进行鉴定,并分析其遗传多样性,将河南主栽的23份香菇种质资源进行重测序,对单核苷酸多态性(single nucleotide polymorphism,SNP)和小片段插入缺失(insertion-deletion,InDel)等数据进行统计和分析,并基于SNP变异对23份香菇资源进行遗传结构分析、进化树构建和主成分分析。结果表明,在23份香菇样本中,比对到参考基因组上的reads数目占总数的比例范围为72.53%~90.60%,样品平均测序深度范围为12.83~19.99,覆盖率范围为91.89%~99.32%。SNP位点共计14115075个,InDel共计1909516个。23份香菇样本的群体遗传结构及系统发育分析表明其包含3个谱系,遗传距离0.05490~0.65689,推测它们至少有3个祖先遗传成分。结合主成分分析法明确各菌种间的亲缘关系远近,证明了菌种分支具有明显的地域性。综合分析表明,以基因序列相似度、遗传距离差异及亲缘关系远近为主要依据特点,有助于对香菇地方品种命名和其特征特性关系的认识,促进优异种质资源的交流与利用。 展开更多
关键词 香菇 重测序 单核苷酸多态性 插入缺失变异 群体遗传结构
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一例Xq22.3q27.3缺失患者的遗传学分析
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作者 王连 惠玲 +2 位作者 马盼盼 程世斌 王兴 《中国计划生育学杂志》 2024年第4期959-962,共4页
目的:对1例无相关特异表型的Turner综合征患者进行遗传学分析,为临床医生识别女性X染色体偏倚失活提供参考。方法:采集1例原发不孕3年的女性及其丈夫和父母的外周静脉血,行染色体核型分析、女方染色体拷贝数变异(CNVs)检测,并进行遗传... 目的:对1例无相关特异表型的Turner综合征患者进行遗传学分析,为临床医生识别女性X染色体偏倚失活提供参考。方法:采集1例原发不孕3年的女性及其丈夫和父母的外周静脉血,行染色体核型分析、女方染色体拷贝数变异(CNVs)检测,并进行遗传学分析。结果:原发不孕患者外周血染色体核型为46,X,del(X)(q22.3),其父母及丈夫染色体核型结果均正常。患者CNVs结果提示X染色体q22.3-q27.3缺失40.62Mb,为致病性改变。患者缺失的X染色体失活偏倚比例为98:2,为X染色体极度失活偏倚。结论:临床医生应考虑到女性患者存在X染色体偏倚失活的可能,尽早发现染色体异常患者,以避免生育风险及出生缺陷的发生。 展开更多
关键词 TURNER综合征 X染色体部分缺失 偏倚失活
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基于EWM-AHP-RF的改进灰色关联云数据确定性删除效果评价
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作者 付钰 李彬 刘涛涛 《海军工程大学学报》 CAS 北大核心 2024年第1期1-7,共7页
针对当前数据确定性删除效果受多因素影响、难以客观评价的问题,提出一种基于熵权法-层次分析法-随机森林(EWM-AHP-RF)确定权重的方法,并与改进的灰色关联模型相结合,对云数据确定性删除方案进行了删除效果的组合评价。首先,构建了删除... 针对当前数据确定性删除效果受多因素影响、难以客观评价的问题,提出一种基于熵权法-层次分析法-随机森林(EWM-AHP-RF)确定权重的方法,并与改进的灰色关联模型相结合,对云数据确定性删除方案进行了删除效果的组合评价。首先,构建了删除效果评价指标体系;然后,将熵权法和层次分析法进行结合,确定了指标的组合权重,并基于随机森林方法进行权重的更新;最后,基于改进灰色关联评价模型对云数据确定性删除方案的删除效果进行了评价。结果验证了所提方法的有效性和科学性。 展开更多
关键词 确定性删除 组合评价 灰色关联
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间充质干细胞外泌体对缺血性脑卒中大鼠神经功能恢复的影响
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作者 刘君鹏 李云飞 李永坤 《中国当代医药》 CAS 2024年第17期4-8,共5页
目的探讨间充质干细胞外泌体(MSCs-EXO)对缺血性脑卒中大鼠神经功能恢复的影响。方法大鼠骨髓间充质干细胞原代培养,超速离心法提取其MSCs-EXO,大脑中动脉夹闭模型(MCAO)法制作大鼠缺血性脑卒中模型,MSCs-EXO经鼻给药,设为MSCs-EXO组,... 目的探讨间充质干细胞外泌体(MSCs-EXO)对缺血性脑卒中大鼠神经功能恢复的影响。方法大鼠骨髓间充质干细胞原代培养,超速离心法提取其MSCs-EXO,大脑中动脉夹闭模型(MCAO)法制作大鼠缺血性脑卒中模型,MSCs-EXO经鼻给药,设为MSCs-EXO组,通过改良神经功能缺损评分(mNSS)和错步试验评估其神经功能恢复情况,并与未治疗模型组(MCAO组)做对比。PKH26标记MSCs-EXO并结合免疫荧光染色观察其在缺血半暗带(IP)中的分布,荧光定量PCR及Western blot检测IP区域脑组织中PTEN的表达水平,并与正常大鼠及MCAO组大鼠进行对比。结果MSCs-EXO治疗组的神经功能恢复高于MCAO组,差异有统计学意义(P<0.05)。免疫荧光染色显示标记外泌体可以进入IP区域神经细胞,荧光定量PCR及Western blot检测显示MSCs-EXO治疗组及MCAO组中PTEN水平均较正常升高,但MSCs-EXO治疗组的PTEN水平低于MCAO组,差异有统计学意义(P<0.05)。结论MSCs-EXO能够促进缺血性脑卒中大鼠的神经功能恢复,这可能与其下调IP区域PTEN表达水平相关。 展开更多
关键词 间充质干细胞 外泌体 缺血性脑卒中 人第10号染色体缺失的磷酸酶及张力蛋白同源的基因 大鼠模型
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《动物分子遗传标记》实验教学设计与实践
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作者 房希碧 刘博群 +4 位作者 张金玉 潘英树 闫守庆 丁雪梅 官员 《畜牧兽医杂志》 2024年第3期75-78,81,共5页
基于“新农科”动物生产类专业创新型复合畜牧人才培养的需求,将CRISPR/Cas9介导的基因敲除小鼠模型引入动物分子遗传标记实验课程中,设计了基因缺失分子标记检测与分析实验,采用基于PBL的混合式教学模式,学生能系统掌握基因组DNA提取、... 基于“新农科”动物生产类专业创新型复合畜牧人才培养的需求,将CRISPR/Cas9介导的基因敲除小鼠模型引入动物分子遗传标记实验课程中,设计了基因缺失分子标记检测与分析实验,采用基于PBL的混合式教学模式,学生能系统掌握基因组DNA提取、PCR扩增技术、琼脂糖凝胶电泳分析、基因型判定等相关理论和实验技术,将多门专业课程的实践环节有机结合,促进了学生理论知识与实验技能的融会贯通,激发了学生的学习热情,提升了专业认同感,培养了综合素质和创新能力。 展开更多
关键词 分子遗传标记 基因缺失鉴定 实验设计 混合式教学
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miR-21低表达对垂体瘤细胞系RC-4BC增殖、凋亡的影响及与PTEN靶向关系
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作者 宋志远 任洪波 +1 位作者 韩晓正 牛国栋 《山东医药》 CAS 2024年第9期24-28,共5页
目的观察微小RNA-21(miR-21)低表达对垂体瘤细胞系RC-4BC增殖、凋亡的影响,并分析其与第10号染色体丢失的张力蛋白同源磷酸酶基因(PTEN)的靶向关系。方法取对数生长期的RC-4BC细胞分为两组,沉默组转染miR-21抑制物miR-21 inhibitor,阴... 目的观察微小RNA-21(miR-21)低表达对垂体瘤细胞系RC-4BC增殖、凋亡的影响,并分析其与第10号染色体丢失的张力蛋白同源磷酸酶基因(PTEN)的靶向关系。方法取对数生长期的RC-4BC细胞分为两组,沉默组转染miR-21抑制物miR-21 inhibitor,阴性对照组转染抑制物阴性对照NC-inhibitor,采用RT-PCR法检测miR-21、第10号染色体丢失的张力蛋白同源磷酸酶基因(PTEN)mRNA,采用CCK8实验观察两组细胞增殖能力(以OD值表示),采用平板克隆实验观察两组细胞集落形成能力(以集落形成数表示),采用流式细胞术观察两组细胞凋亡率并观察细胞周期分布情况。收集RC-4BC细胞制备单细胞悬液,分别将miR-21 mimics或NC-mimics与PTEN-WT或PTEN-MUT共转染至RC-4BC细胞,转染后细胞标记为miR-21 mimics+PTEN-WT组、NC-mimics+PTEN-WT组、miR-21 mimics+PTEN-MUT组、NC-mimics+PTEN-MUT组,采用双荧光素酶报告基因实验验证miR-21与PTEN的靶向关系。结果沉默组RC-4BC细胞中miR-21、PTEN mRNA相对表达量分别为0.30±0.08、2.89±0.14,阴性对照组RC-4BC细胞中miR-21、PTEN mRNA相对表达量分别为1.01±0.02、0.99±0.03,两组相比,P均<0.05。沉默组RC-4BC细胞24 h、48 h、72 h时OD值均低于阴性对照组(P均<0.05)。沉默组RC-4BC细胞集落形成数低于阴性对照组(P<0.05)。沉默组RC-4BC细胞凋亡率高于阴性对照组(P<0.05)。沉默组RC-4BC细胞G0/G1期占比65.65%±7.82%、S期占比19.25%±3.70%,阴性对照组RC-4BC细胞G0/G1期占比45.62%±5.03%、S期占比35.72%±4.67%,两组相比,P均<0.05。miR-21 mimics+PTEN-WT组、NC-mimics+PTEN-WT组、miR-21 mimics+PTEN-MUT组、NC-mimics+PTEN-MUT组细胞的相对荧光素酶活性分别为0.39±0.07、1.02±0.03、1.01±0.04、1.00±0.03,其中miR-21 mimics+PTEN-WT组相对荧光素酶活性与其他各组相比,P均<0.05。结论沉默miR-21能够移至垂体瘤细胞系RC-4BC的增殖、促进其凋亡,其机制可能与靶向调控PTEN基因有关。 展开更多
关键词 微小RNA-21 垂体瘤 RC-4BC细胞 第10号染色体丢失的张力蛋白同源磷酸酶基因 细胞增殖 细胞凋亡 细胞周期
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向量角选择和指标删除的高维多目标进化算法
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作者 顾清华 骆家乐 李学现 《计算机科学与探索》 CSCD 北大核心 2024年第2期425-438,共14页
针对进化算法求解高维多目标优化问题平衡收敛性和多样性所面临的挑战,提出了向量角选择和指标删除的高维多目标进化算法(MOEA/AS-ID)。该算法在环境选择过程中设计了一种包含两种策略的协作机制逐一删除收敛性和多样性差的解以保留精... 针对进化算法求解高维多目标优化问题平衡收敛性和多样性所面临的挑战,提出了向量角选择和指标删除的高维多目标进化算法(MOEA/AS-ID)。该算法在环境选择过程中设计了一种包含两种策略的协作机制逐一删除收敛性和多样性差的解以保留精英个体参与下一代的进化。前者基于向量角的选择策略用于选择一对在目标空间具有相似搜索方向的解,后者基于指标的删除策略采用同时兼顾个体收敛性和分布性的I_(SDE)^(+)指标比较被选择的这一对解,然后删除具有较小指标值的解,进而促使种群朝各个方向收敛到帕累托最优前沿,最终平衡解集的收敛性和多样性。在包含各种特征的3组标准测试系列问题DTLZ、SDTLZ、MaF上,MOEA/AS-ID与近年提出的6个涵盖了当前各种类型的高维多目标进化算法执行了广泛的对比仿真实验和数值结果分析。仿真结果和数值分析表明所提算法MOEA/AS-ID求解各种特征的高维多目标优化问题平衡收敛性和多样性的能力具有较强的竞争力。 展开更多
关键词 进化算法 高维多目标优化 向量角选择 指标删除 收敛性 多样性
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自身免疫性肝病患者血清PRDX1、PTEN水平及其与肝功能、疾病活动性的关系
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作者 李青 周路艳 +1 位作者 谭智 刘灵芝 《国际检验医学杂志》 CAS 2024年第14期1682-1686,共5页
目的探讨过氧化物氧化还原蛋白(PRDX)1、第10号染色体缺失性磷酸酶-张力蛋白同源物基因(PTEN)水平与自身免疫性肝病患者肝功能、疾病活动性的关系。方法选取2021年1月至2022年12月该院收治的83例自身免疫性肝病患者作为研究对象,根据入... 目的探讨过氧化物氧化还原蛋白(PRDX)1、第10号染色体缺失性磷酸酶-张力蛋白同源物基因(PTEN)水平与自身免疫性肝病患者肝功能、疾病活动性的关系。方法选取2021年1月至2022年12月该院收治的83例自身免疫性肝病患者作为研究对象,根据入院时疾病活动性分为活动期组(37例)、缓解期组(46例),统计两组临床资料及入院时血清PRDX1、PTEN水平,同时对患者进行肝功能Child-Pugh分级并分组。选取同期体检的100例健康志愿者作为对照组。采用多因素Logistic逐步回归分析自身免疫性肝病患者疾病活动性的影响因素,采用受试者工作特征(ROC)曲线及曲线下面积(AUC)分析治疗后血清PRDX1、PTEN水平对自身免疫性肝病患者疾病活动性的评估价值。结果与A级组比较,B级组血清PRDX1、PTEN水平差异无统计学意义(P>0.05),而C级组血清PRDX1水平升高,PTEN水平降低(P<0.05);与B级组相比,C级组血清PRDX1水平升高、PTEN水平降低(P<0.05);与对照组比较,缓解期组血清PRDX1、PTEN水平差异无统计学意义(P>0.05),而活动期组血清PRDX1水平升高、PTEN水平降低(P<0.05);与缓解期组相比,活动期组血清PRDX1水平升高、PTEN水平降低(P<0.05)。血清PRDX1、PTEN判断自身免疫性肝病患者疾病活动性的AUC分别为0.750、0.854,二者联合预测的AUC为0.916。活动期组患者肝区不适、肝硬化占比高于缓解期组(P<0.05);多因素Logistic逐步回归分析显示,肝区不适(OR=3.487,95%CI:1.534~7.927),肝硬化(OR=4.289,95%CI:1.744~10.545),PRDX1≥5.22 ng/mL(OR=5.068,95%CI:1.951~13.164),PTEN≤0.31 pg/mL(OR=5.387,95%CI:2.099~13.829)是影响自身免疫性肝病疾病活动性的危险因素(P<0.05)。结论血清PRDX1水平升高、PTEN水平降低与自身免疫性肝病患者肝功能、疾病活动性密切相关,二者对自身免疫性肝病患者具有一定临床评估价值。 展开更多
关键词 自身免疫性肝病 过氧化物氧化还原蛋白1 第10号染色体缺失性磷酸酶-张力蛋白同源物基因 肝功能 疾病活动性
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