Beutler E, Kuhl W, Ramirez E, Lisker R
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, CA 92037.
Hum Genet. 1991 Feb;86(4):371-4. doi: 10.1007/BF00201837.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency appears to be fairly common in Mexico. We have now examined the DNA of three previously reported electrophoretically fast Mexican G6PD variants, -G6PD Distrito Federal, G6PD Tepic, and G6PD Castilla. All three of these variants, believed on the basis of biochemical characterization and population origin to be unique, have the G----A transition at nucleotide 202 and the A----G transition at nucleotide 376, mutations that we now recognize to be characteristic of G6PD A-. Two other Mexican males with G6PD deficiency were found to have the same mutation. All five have the (NlaIII/FokI/PvuII/PstI) haplotype characteristic of G6PD A -in Africa. Since the PvuII+ genotype seems to be rare in Europe, we conclude that all of these G6PD A - genes had their ancient origin in Africa, although in many of the Mexican patients with G6PD A -202A/376G the gene may have been imported more recently from Spain, where this variant, formerly known as G6PD Betica, is also prevalent.
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在墨西哥似乎相当常见。我们现在检测了三个先前报道的电泳快速迁移的墨西哥G6PD变异体——G6PD联邦区、G6PD特皮克和G6PD卡斯蒂利亚的DNA。基于生化特征和群体起源,这三个变异体都被认为是独特的,但它们在核苷酸202处都有G→A转换,在核苷酸376处都有A→G转换,我们现在认识到这些突变是G6PD A-的特征。另外两名患有G6PD缺乏症的墨西哥男性也被发现有相同的突变。所有五人都具有非洲G6PD A-特有的(NlaIII/FokI/PvuII/PstI)单倍型。由于PvuII+基因型在欧洲似乎很罕见,我们得出结论,所有这些G6PD A-基因都起源于非洲,尽管在许多患有G6PD A-202A/376G的墨西哥患者中,该基因可能是最近从西班牙传入的,在西班牙这种变异体(以前称为G6PD贝蒂卡)也很普遍。