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Personalized Medicine for Diabetes: Technologies for Diabetes Genomics

机译:糖尿病个性化药物:糖尿病基因组学技术

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摘要

The genetic risk for diabetes largely depends on the type of diabetes and the penetrance and severity of the effect of the contributing genes. This ranges from the high-risk mutations of neonatal diabetes and maturityonset diabetes of the young to the lower, but still significant, risk conferred by common human leukocyte antigen alleles in type 1 diabetes to the still-lower risk conferred by the common variants associated with type 2 diabetes. There are many new molecular technologies, each with their own set of methodological issues, that have been used for genome-wide association studies and that can be used for determining the genetic risk for these various types of diabetes. These technologies include whole genome single nucleotide polymorphism microarrays, high-throughput polymorphism analyzers, next-generation sequencers, and copy-number variant technologies.
机译:糖尿病的遗传风险在很大程度上取决于糖尿病的类型以及影响基因的外在性和严重性。范围从新生儿糖尿病和年轻人的成熟型糖尿病的高风险突变到1型糖尿病的常见人类白细胞抗原等位基因所赋予的较低但仍显着的风险,再到与该疾病相关的常见变异所带来的较低风险2型糖尿病。有许多新的分子技术,每种都有各自的方法学问题,已用于全基因组关联研究,并可用于确定这些各种类型糖尿病的遗传风险。这些技术包括全基因组单核苷酸多态性微阵列,高通量多态性分析仪,下一代测序仪和拷贝数变异技术。

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