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首页> 外文期刊>Biochemical Genetics >Frequency distribution of Q188R, N314D, duarte 1, and duarte 2 GALT variant alleles in an Indian galactosemia population
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Frequency distribution of Q188R, N314D, duarte 1, and duarte 2 GALT variant alleles in an Indian galactosemia population

机译：印度半乳糖血症人群中Q188R，N314D，duarte 1和duarte 2 GALT变异等位基因的频率分布

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摘要

Classical galactosemia is a genetic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The Q188R and N314D mutations are the most frequently cited GALT gene mutations. N314D is further associated with two variants, Duarte 1 and Duarte 2. Nevertheless, no reports are available on the clinical and molecular spectrum of galactosemia from the Indian population. The present study was designed to establish the frequency of these two most common mutations and their variants in Indian galactosemia patients so as to determine a single most common mutation/polymorphism for establishing the DNA-based diagnosis of galactosemia. Three alleles were found to be present at a frequency of 0.036 (Q188R), 0.40 (N314D), and 0.39 (D2); no D1 alleles were found. A significantly higher frequency of the Duarte 2 allele in our population suggests the presence of a milder form of galactosemia, which can be well managed by early diagnosis and dietary management.
机译：古典半乳糖血症是一种遗传疾病，由半乳糖-1-磷酸尿嘧啶转移酶（GALT）基因突变引起。 Q188R和N314D突变是最常见的GALT基因突变。 N314D还与两个变异体Duarte 1和Duarte 2相关。但是，尚无关于印度人群半乳糖血症的临床和分子谱的报道。本研究旨在确定印度半乳糖血症患者中这两个最常见突变及其变异的频率，从而确定单个最常见突变/多态性，以建立基于DNA的半乳糖血症诊断。发现三个等位基因的频率为0.036（Q188R），0.40（N314D）和0.39（D2）;找不到D1等位基因。在我们的人群中，Duarte 2等位基因的频率显着较高，这表明存在半乳糖血症的程度较轻，可以通过早期诊断和饮食管理来很好地控制半乳糖血症。

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