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墨西哥梅斯蒂索人中的血红蛋白S [β6(A3)谷氨酸→缬氨酸,GAG>GTG]:5'β-珠蛋白单倍型的频率及分析

Hb S [β6(A3)Glu→Val, GAG>GTG] in Mexican Mestizos: frequency and analysis of the 5' β-globin haplotype.

作者信息

Guzmán Luis F, Perea Francisco J, Magaña María T, Morales-González Karina R, Chávez-Velazco M Luz, Ibarra Bertha

机构信息

Centro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México 44340.

出版信息

Hemoglobin. 2010;34(6):509-15. doi: 10.3109/03630269.2010.526483.

Abstract

Between 1978 and 2009, we studied 1,863 Mexican Mestizo patients with clinical data compatible with a hemoglobinopathy. Of these patients, 382 had some hemoglobin (Hb) abnormality (20.5%), 128 had a sickle cell hemoglobinopathy, representing a general frequency of 6.9%, which is similar to the percentage observed in previous studies on Mexican Mestizos. We analyzed the 5' β-globin haplotype (5'Hp) in 79 unrelated β(S) chromosomes (26 β(S)/β(S), 14 β(S)/β(Thal), nine β(S)/β(A) and four β(S)/β(D)), and four haplotypes were observed: 72.2% CAR 24.1% Benin, 2.5% Senegal and 1.2% Cameroon; the last two are reported for first time in Mexico. In some Latin American populations such as Brazil, the Bantu haplotype predominates, while in others such as Jamaica, the Benin haplotype is the most frequent, showing heterogeneity of African genes as a consequence of different regions involved in the slave trade.

摘要

1978年至2009年间,我们研究了1863名患有血红蛋白病临床数据的墨西哥梅斯蒂索患者。在这些患者中,382人存在某种血红蛋白(Hb)异常(20.5%),128人患有镰状细胞血红蛋白病,总体发生率为6.9%,这与之前对墨西哥梅斯蒂索人的研究中观察到的百分比相似。我们分析了79条不相关的β(S)染色体(26条β(S)/β(S)、14条β(S)/β(地中海贫血)、9条β(S)/β(A)和4条β(S)/β(D))的5'β-珠蛋白单倍型(5'Hp),观察到四种单倍型:72.2%为CAR、24.1%为贝宁型、2.5%为塞内加尔型和1.2%为喀麦隆型;后两种在墨西哥首次报道。在一些拉丁美洲人群中,如巴西,班图单倍型占主导地位,而在其他人群中,如牙买加,贝宁单倍型最为常见,这表明由于奴隶贸易涉及不同地区,非洲基因存在异质性。

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