Sukumar Sridevi, Mukherjee Malay B, Colah Roshan B, Mohanty Dipika
Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai - 400 012, India.
Blood Cells Mol Dis. 2004 Sep-Oct;33(2):141-5. doi: 10.1016/j.bcmd.2004.06.003.
G6PD deficiency has been reported from India more than 30 years ago and about 13 variants have been characterized biochemically. Here, we report the results of an epidemiological study investigating G6PD deficiency and the mutations among 14 heterogenous populations of India. Of the 3166 males tested, 332 (10.5%) were found to be G6PD-deficient and the prevalence rate varied from 5.7% to 27.9% in the different population groups. Molecular characterization revealed that G6PD Mediterranean (563 C-->T) was the commonest (60.4%) deficient variant followed by G6PD Kerala-Kalyan (949 G-->A; 24.5%) and G6PD Orissa (131 C-->G; 13.3%). G6PD Mediterranean had a more widespread distribution as compared to G6PD Kerala-Kalyan and G6PD Orissa and was associated with both 1311 C and 1311 T polymorhism. G6PD Mediterranean was found to have significantly lower red cell enzyme activity and more severe clinical manifestations than the other two. G6PD Chatham (1003 G-->A) with undetected red cell enzyme activity and G6PD Insuli (989 G-->A) with normal G6PD activity were very rare in the Indian population. The absence of a large number of mutations causing G6PD deficiency points to the fact that the genetic diversity of these populations is considerably lowered than expected.
30多年前印度就已报道过葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症，并且已经对约13种变异体进行了生化特征鉴定。在此，我们报告一项流行病学研究的结果，该研究调查了印度14个不同人群中的G6PD缺乏症及相关突变情况。在接受检测的3166名男性中，发现332人（10.5%）存在G6PD缺乏，不同人群组中的患病率从5.7%至27.9%不等。分子特征分析显示，G6PD地中海型（563 C→T）是最常见的（60.4%）缺乏变异体，其次是G6PD喀拉拉-卡利安型（949 G→A；24.5%）和G6PD奥里萨型（131 C→G；13.3%）。与G6PD喀拉拉-卡利安型和G6PD奥里萨型相比，G6PD地中海型分布更为广泛，并且与1311 C和1311 T多态性均相关。结果发现，G�PD地中海型的红细胞酶活性显著低于其他两种类型，临床表现也更为严重。G6PD查塔姆型（1003 G→A）红细胞酶活性未检测到，G6PD因苏利型（989 G→A）G6PD活性正常，这两种类型在印度人群中非常罕见。导致G6PD缺乏的大量突变不存在，这表明这些人群的遗传多样性比预期的要低得多。
