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缅甸南部孟族和缅族中的葡萄糖-6-磷酸脱氢酶突变

Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar.

作者信息

Nuchprayoon Issarang, Louicharoen Chalisa, Charoenvej Warisa

机构信息

Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Rama IV Rd, Bangkok, 10330, Thailand.

Chula Medical Research Center, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

出版信息

J Hum Genet. 2008;53(1):48-54. doi: 10.1007/s10038-007-0217-3. Epub 2007 Nov 28.

Abstract

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.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在东南亚地区极为普遍。G6PD突变与东南亚的特定族群相关。孟族是缅甸的一个少数民族,讲孟语,属于孟-高棉语系的一种独特语言。我们研究了缅甸南部移民到泰国沙没沙空府的孟族和缅族男性的G6PD突变情况。在162名孟族男性中有19名(12%)被鉴定为G6PD缺乏症,在178名缅族男性中有17名(10%)被鉴定为G6PD缺乏症,随后对他们进行了G6PD突变检测。在19名G6PD缺乏的孟族人中,12人是G6PD马希多尔型;各有1例为G6PD查谟型(871G>A;第1311位核苷酸C)、G6PD开平型(1388G>A)、G6PD地中海型(563C>T)、一种新突变94(C>G);还有3例未明确。在17名G6PD缺乏的缅族人中,12人是G6PD马希多尔型;各有1例为G6PD科英布拉型(592C>T)、G6PD喀拉拉-卡利安型(949G>A)和G6PD巴利亚多利德型(406C>T);还有2例未明确。G6PD马希多尔型(487G>A)是孟族人和缅族人中最常见的突变类型。除了一名G6PD巴利亚多利德型患者外,所有G6PD缺乏的孟族人和缅族人都共享单倍型nt93T、nt1311C。尽管孟语与柬埔寨高棉语有相似的语源,但我们的研究表明,孟族人与缅族人有共同的祖先,而非柬埔寨人。

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