Medina M D, Vaca G, Lopez-Guido B, Westwood B, Beutler E
Division de Genetica, Centro de Investigacion Biomedica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
Blood Cells Mol Dis. 1997;23(1):88-94. doi: 10.1006/bcmd.1997.0124.
Several studies carried out between 1965 and 1985 showed that G-6-PD deficiency in Mexico is heterogeneous at the biochemical level and that the G-6-PD A- phenotype is relatively common. We have now investigated the molecular basis of G-6-PD deficiency in Mexico. Up-to-date 60 chromosomes with G6PD mutations have been studied, 16 in previous studies and 44 in the present work. Molecular analysis of DNA from G-6-PD deficient Mexican mestizos and their relatives show that G-6-PD A- genotypes are relatively common but also that in Mexico G-6-PD deficiency is heterogeneous at the DNA level. Thus, five different genotypes have been observed: G-6-PD A-(202A/376G) (41 chromosomes), G-6-PD A-(376G/968C) (14 chromosomes), G-6-PD Seattle844C (3 chromosomes), G-6-PD "Mexico City"680A (1 chromosome) and G-6-PD Guadalajara1159T (1 chromosome). The G-6-PD A-(202A/376G), G-6-PD A-(376G/968C) and G-6-PD Seattle844C mutations in Mexico are on the same Pvu II/ Pst I/ 1311 / Nla III haplotypes as found in individuals from Africa, Spain and the Canary Islands. Consequently, these mutations were probably imported to Mexico through African slaves and/or the Spanish immigrants during and after the colonization.
1965年至1985年间开展的多项研究表明，墨西哥的葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症在生化水平上具有异质性，且G-6-PD A-表型相对常见。我们现已对墨西哥G-6-PD缺乏症的分子基础展开研究。截至目前，已对60条携带G6PD突变的染色体进行了研究，其中16条来自先前的研究，44条来自本研究。对G-6-PD缺乏的墨西哥混血儿及其亲属的DNA进行分子分析表明，G-6-PD A-基因型相对常见，但在墨西哥，G-6-PD缺乏症在DNA水平上也具有异质性。因此，已观察到五种不同的基因型：G-6-PD A-（202A/376G）（41条染色体）、G-6-PD A-（376G/968C）（14条染色体）、G-6-PD西雅图844C（3条染色体）、G-6-PD“墨西哥城”680A（1条染色体）和G-6-PD瓜达拉哈拉1159T（1条染色体）。墨西哥的G-6-PD A-（202A/376G）、G-6-PD A-（376G/968C）和G-6-PD西雅图844C突变与在非洲、西班牙和加那利群岛个体中发现的突变位于相同的Pvu II / Pst I / 1311 / Nla III单倍型上。因此，这些突变可能是在殖民期间及之后通过非洲奴隶和/或西班牙移民传入墨西哥的。
