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Brief Genetics Report: Altered β-Cell Characteristics in Impaired Glucose Tolerant Carriers of a GAA Trinucleotide Repeat Polymorphism in the Frataxin Gene

机译:简要的遗传学报告:在Frataxin基因的GAA三核苷酸重复多态性受损的葡萄糖耐性载体中,β细胞特性发生了改变。

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摘要

Friedreich's ataxia is associated with GAA trinu- cleotide repeat expansions in the frataxin gene. In the general population, these trinucleotide expan- sions are variabel in length, and three types of expansions are seen: short, intermediate, and log repeats. Friedreich's ataxia patients are generally homozygous for The long repeats and exhibit diabetes as pronounced comor- Bidity (1,2). Ristow et al. (3) recently reported an association Between the intermediate-length normal allele in the frataxin Gene and type 2 diabetes.
机译:Friedreich的共济失调与frataxin基因中的GAA三核苷酸重复扩增有关。在一般人群中,这些三核苷酸的扩增长度是可变的,可以看到三种类型的扩增:短重复,中间重复和对数重复。 Friedreich的共济失调患者通常是The Long重复序列的纯合子,并表现出明显的合并症(1,2)。 Ristow等。 (3)最近报道了frataxin基因的中等长度正常等位基因与2型糖尿病之间的关联。

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