Casas-Castañeda M, Hernandez-Lugo I, Torres O, Barajas H, Cibrian S, Zamudio G, Villalobos-Arambula A R, Hermosillo-Bañuelos R M, Perea F J, Ibarra B
Divisione de Genética, Centro de Investigación Biomédica de Occidente, Guadalajara, Jal, México.
Rev Invest Clin. 1998 Sep-Oct;50(5):395-8.
To identify by molecular biology the alleles of alpha-Thal in selected hospital populations.
Eighteen propositi with hematological and biochemical data suggestive of alpha-thalassemia, selected from 356 patients of four hospitals in two cities with probable hemoglobinopathy were investigated for six common alpha-Thal alleles. Molecular studies were done by PCR and digestion with specific restriction enzymes.
The alpha 3.7 allele was identified in two cases and the family study revealed the same allele in the mother; HbS heterozigocity was also detected in one of them. An analysis with Apa I demonstrated a class I deletion in both patients. The present study showed 2/356 (0.6%) of alpha 3.71 carriers which is a low frequency as compared with other countries. As no other common alpha-thalassemia alleles were found, we suspect that alpha-Thal in Mexico is as heterogeneous at a molecular level as beta-Thal.
通过分子生物学方法鉴定选定医院人群中α地中海贫血的等位基因。
从两个城市四家医院的356例疑似血红蛋白病患者中选取18例有血液学和生化数据提示α地中海贫血的先证者，检测六种常见的α地中海贫血等位基因。采用聚合酶链反应（PCR）及特定限制性内切酶消化进行分子研究。
在两例患者中鉴定出α 3.7等位基因，家系研究显示其母亲也有相同等位基因；其中一例还检测到镰状细胞血红蛋白（HbS）杂合性。用Apa I进行分析表明，两名患者均存在I类缺失。本研究显示α 3.71携带者占2/356（0.6%），与其他国家相比频率较低。由于未发现其他常见的α地中海贫血等位基因，我们怀疑墨西哥的α地中海贫血在分子水平上与β地中海贫血一样具有异质性。
