Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar
Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar
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DOI：
10.1007/s10038-007-0217-3
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发表时间：
2008-01-01
影响因子：
3.5
通讯作者：
Charoenvej, Warisa
中科院分区：
文献类型：
--
作者：
Nuchprayoon, Issarang;Louicharoen, Chalisa;Charoenvej, Warisa
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在东南亚人中非常普遍。G6PD突变与东南亚特定的种族群体有关。蒙语是缅甸的一个少数民族，讲蒙尼语，这是蒙高棉语分类的一种独特的语言。我们研究了缅甸南部Samutsakhon省移居泰国的孟族和缅甸男性的G6PD突变。在162名缅甸男性中有19名(12%)和178名缅甸男性中有17名(10%)被确认为G6PD缺乏症，然后进行了G6PD突变检测。在19个G6PD缺陷型Mons中，12例为G6PD Mahidol，1例为G6PD查谟(871G>；A；nt1311C)，G6PD开平(1388G>；A)，G6PD地中海(563C>；T)，1例新突变94(C>；G)；3例仍未鉴定。在17名G6PD缺乏症缅甸人中，12人是G6PD Mahidol；G6PD Coimbra(592C&gT；T)、G6PD Kerala-Kalyan(949G&gT；A)和G6PD Valldorid(406C&>T)各1人；还有两人身份不明。G6PD Mahidol(487G>；A)是孟族和缅甸人中最常见的突变。除1名G6PD巴拉多利德患者外，所有缺乏G6PD的孟族人和缅甸人都具有相同的单倍型nt93T，nt1311C。尽管与柬埔寨的高棉语有相似的语源，但我们的研究表明，孟族人与缅甸人有共同的祖先，而不是柬埔寨人。
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in Southeast Asians. G6PD mutations are associated with specific ethnic groups in Southeast Asia. Mon is a minority ethnic group in Myanmar, which speaks Monic, a distinct language of Mon-Khmer classification. We studied G6PD mutations in Mon and Burmese males of southern Myanmar who migrated to Thailand in Samutsakhon province. G6PD deficiency was identified in 19 (12%) of 162 Mon males and 17 (10%) of 178 Burmese males, and then assayed for G6PD mutations. Among 19 G6PD-deficient Mons, 12 were G6PD Mahidol; one case each was G6PD Jammu (871G > A; nt 1311C), G6PD Kaiping (1388G > A), G6PD Mediterranean (563C > T), a novel mutation 94(C > G); and three remain unidentified. Among 17 G6PD-deficient Burmese, 12 were G6PD Mahidol; one each was G6PD Coimbra (592C > T), G6PD Kerala-Kalyan (949G > A), and G6PD Valladolid (406C > T); and two remain unidentified. G6PD Mahidol (487G > A) is the most common mutation among Mons and Burmese. All G6PD deficient Mon and Burmese, except for a person with G6PD Valladolid, shared the same haplotype nt93T, nt1311C. Despite a similar language root with Cambodian's Khmer language, our study suggests that Mon people share a common ancestry with Burmese rather than Cambodians.