【摘 要】
:
Purpose To explore 17 killer cell immunoglobulin-like receptors (KIRs) gene and their ligands (human leukocyte antigen HLA-A and-B) polymorphisms in the Kazak individuals.Methods: 17 killer cell immun
【机 构】
:
Medical Genetic Institute of Henan Province, People's Hospital of Henan Province, Zhengzhou
论文部分内容阅读
Purpose To explore 17 killer cell immunoglobulin-like receptors (KIRs) gene and their ligands (human leukocyte antigen HLA-A and-B) polymorphisms in the Kazak individuals.Methods: 17 killer cell immunoglobulin-like receptors (KIR) genes and KIR ligands (human leukocyte antigen HLA-A and-B) were detected by using a polymerase chain reaction-sequence-specific primer (PCR-SSP).Methods Neighbor-joining phylogenetic tree between the studing population and its neighboring ethnic groups was constructed using the observed carrier frequencies of 13 KIR loci by SPSS 13.0.Result In the 110 unrelated healthy Kazak individuals living in Xinjiang Uygur Autonomous Region of China, we found the observed carrier frequencies of the 13 KIR genes ranged from 0.16 to 0.96; KIR2DL4, 3DL2, 3DL3 and 3DP1 were found to be present in every individual.And a total of 48 different KIR gene profiles were also identified.Conclusion the present study findings reveal the high polymorphism of KIRs in the Kazak population, demonstrate the KIR/HLA association in the study population, and enrich the KIR and HLA gene resources.The obtained KIR data will further the understanding of genetic relationships among populations in different geographic areas, and assist in answering questions regarding KIR/HLA relationships.
其他文献
目的 脆性X综合征(fragile X syndrome,FXS)是一种常见的遗传性智力障碍疾病.1991年在Xq27.3处克隆了该病的疾病基因——脆性X智力障碍1基因(fragile X mental retardation 1 gene,FMR1).FMR1基因跨越38Kb,由17个外显子和16个内含子组成,编码一功能未明的RNA结合蛋白.已证实FMR1基因存在多种可变剪接方式,主要涉及四个外
目的 通过分析6-磷酸葡萄糖脱氢酶(glucose-6-phosphate dehydrogenase.G6PD)缺乏男性半合子及其母亲的表型与基因型的关系,验证Lynon假说的正确性并为遗传咨询提供实验证据.方法 通过连续采样法,收集144家G6PD缺乏男性半合子及其母亲的血液标本,荧光斑点试验和四氮唑蓝(NBT)法分别用于G6PD缺乏症的筛查和红细胞中G6PD酶活性定量,然后再采用反向点杂交(
目的 脂联素是一种由脂肪组织细胞特异分泌的细胞因子,与胰岛素抵抗和代谢综合征密切相关.本研究旨在通过对肥胖-正常体重人群进行全基因组关联研究(Genome Wide Association Study, GWAS)和基因交互作用研究(gene-gene interactions,epistasis),寻找与脂联素(adiponectin)相关联的基因以及位于共同信号通路上的基因交互作用.方法 本研
Backgroud Duchenne muscular dystrophy is the most common and lethal X-linked neuromuscular diseases, which is characterized by progressive muscle weakness and the pseudo hypertrophy of gastrocnemius.D
目的 建立对肝豆状核变性进行分子诊断新方法,并应用在临床上。方法 先循基因组途径,采用PCR-RFLP分析方法,检测中国人第一热点(R778L)及第二热点(T935M)突变。对无第一、二热点突变的,采用长链RT-PCR技术,从外周血提取总RNA并合成cDNA,以cDNA为模板,分7个片段扩增致病基因编码区,将纯化后的PCR产物直接测序,找出基因突变的位点。同时应用限制性酶切分析(或基因组DNA P
Backgroud Fragile X mental retardation 1 gene (FMR1) is the disease gene of fragile X syndrome (FXS), which has been proved to have several splicing patterns.Methods T cloning-sequencing was used to a
Background Massively parallel sequencing of circulating cell-free fetal DNA from matemal plasma has been applied widely to fetal chromosome aneuploidies identification.Non-invasive prenatal testing (N
Objective Retinoic acid receptor related receptor α (RORα) is a nuclear receptor modulating physiopathological processes such as dyslipidemia, atherosclerosis, obesity and diabetes.RORα deficient mice
目的 研究癌症组织中体细胞突变导致的转录水平的变异与肿瘤之间的关系.方法 用传统测序及FISH对200例肺癌组织样本进行了肺癌相关基因突变及融合基因筛查,并对其中87例具有详细吸烟史的样本进行了配对肿瘤组织与癌旁组织的转录组测序和外显子测序.结果 分析结果鉴定了肺癌driver基因,包括:EGFR,KRAS,NRAS,BRAF, PIK3CA,MET和CTNNB1,新发现的肺癌driver基因有:
背景 FAT10是近期被发现的类泛素蛋白家族成员之一,其在心脏中的生物学功能尚未被定义。本研究的目的是确定FAT10在心肌细胞凋亡中发挥的作用。方法 (1)通过结扎冠脉左前降支构建大鼠心梗模型,检测梗死边缘区FAT10的蛋白表达。(2)体外构建FAT10过表达慢病毒,转染大鼠原代心肌细胞后暴露于缺氧/复氧的环境中,通过流式细胞术与TUNEL染色检测心肌细胞凋亡率,用Westernblot检测凋亡相