Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Biochem Genet. 2012 Dec;50(11-12):871-80. doi: 10.1007/s10528-012-9527-z. Epub 2012 Jul 15.
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.
经典型半乳糖血症是一种由半乳糖-1-磷酸尿苷酰转移酶（GALT）基因突变引起的遗传疾病。Q188R 和 N314D 突变是最常被引用的 GALT 基因突变。N314D 还与两种变体 Duarte1 和 Duarte2 相关。然而，目前还没有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种最常见突变及其变体的频率，以便确定一种最常见的突变/多态性，用于建立半乳糖血症的基于 DNA 的诊断。发现三个等位基因的频率分别为 0.036（Q188R）、0.40（N314D）和 0.39（D2）；未发现 D1 等位基因。我们人群中 Duarte2 等位基因的频率显著升高表明存在一种较轻形式的半乳糖血症，通过早期诊断和饮食管理可以很好地控制。
