CORE D: HUMAN GENETICS CORE

遗传易感性极大地促进了糖尿病的发展，并对其他代谢和 与糖尿病及其并发症相关的内分泌紊乱。全基因组研究的最新成果 联合和外显子组测序已经证明，现在存在识别 许多导致复杂疾病的基因。为了在这些努力中取得成功，有必要 结合遗传流行病学、临床调查、分子基因分型、DNA测序、 和数学遗传分析。人类遗传学核心的目标是为刚果民主共和国提供这样的专业知识 研究人员对糖尿病及其并发症和相关内分泌的遗传学进行研究 精神错乱。为了实现这一目标，人类遗传学核心将：1)协助刚果民主共和国的调查人员进行初步的 研究设计、生物信息学、数据分析和数据解释支持；2)建立和维护EBV 转化成淋巴母细胞系并产生用于DNA/RNA分离的非活细胞颗粒；3)提供 来自糖尿病和/或胰岛素敏感者的匿名淋巴母细胞系 给DRC调查人员，用于搜索特定候选基因的变异和 评估候选基因的差异表达作为胰岛素抵抗的函数；4)提供 候选基因和基因组的分子方法学和专业化的高通量SNP检测， 和候选基因、外显子组和全基因组测序；5)诱导多能干细胞(Ipscs) 作为研究特定基因变异对器官影响的一种手段提供给研究人员 发展和组织功能；以及6)为刚果民主共和国调查人员和工作人员提供培训，以便他们能够 其中许多程序本身都得到了核心工作人员的协商支持。在上一个周期中， 人类遗传学核心为DRC的研究人员带来了GWAS技术，并在这个周期中扩展了 可用于研究人类样本的技术，加上专门的基因分型芯片， 甲基化芯片、外显子组测序和IPSC技术。刚果民主共和国提供了一个独特的机会 促进旨在识别和表征导致2型糖尿病的基因和 相关疾病，包括大血管和微血管并发症，通过提供 在人类群体中进行这类基因研究所需的专业知识和设施。

Genetic susceptibility contributes significantly to the development of diabetes, and to other metabolic and endocrine disorders associated with diabetes and their complications. Recent successes in genome wide association and exome sequencing have demonstrated that the technological capability now exists to identify many of the genes responsible for complex disorders. To be successful in such endeavors, it is necessary to combine expertise in genetic epidemiology, clinical investigation, molecular genotyping, DNA sequencing, and mathematical genetic analysis. The goal of the Human Genetics Core is to offer such expertise to DRC investigators conducting studies into the genetics of diabetes, its complications and related endocrine disorders. To achieve this objective, the Human Genetics Core will: 1) assist DRC investigators with initial study design, bioinformatic, data analysis, and data interpretation support; 2) establish and maintain EBV transformed lymphoblastoid cell lines and generate nonviable cell pellets for DNA/RNA isolation; 3) provide anonymized lymphoblastoid cell lines from subjects well characterized for diabetes and/or insulin sensitivity to DRC investigators for such purposes as searching for variations in specific candidate genes and evaluating differential expression of candidate genes as a function of insulin resistance; 4) provide access to molecular methodology for candidate gene and genome wide and specialized high throughput SNP testing, and candidate gene, exome and whole genome sequencing; 5) make induced pluripotent stem cells (iPSCs) available to investigators as a means of investigating the impact of specific genetic variants on organ development and tissue function; and 6) provide training to DRC investigators and staff so they can perform many of these procedures themselves, with consultative support from Core staff. In the last cycle, the Human Genetics Core brought GWAS technology to DRC investigators and in this cycle extends the technology available for studying human samples with the addition of specialized genotyping chips, methylation chips, exome sequencing, and iPSC technology. The DRC offers a unique opportunity to facilitate research directed at identifying and characterizing the genes responsible for Type 2 diabetes and related disorders, including both macrovascular and microvascular complications, by providing access to both the expertise and facilities necessary for such genetic research in human populations.