Ibarra B, Perea F J, Villalobos-Arámbula A R
División de Genética, Centro Médico Nacional de Occidente, IMSS, Guadalajara, Jalisco.
Rev Invest Clin. 1995 Mar-Apr;47(2):127-31.
We present an analysis of the thalassemic alleles observed in Mexican mestizos. In 18 unrelated patients with mild to severe hemolytic anemia we saw 16 with beta-thal and two with alpha-thal and identified 25 chromosomes with 14 different alleles (10 for beta-thal), predominating the Mediterranean type (seven beta-thal and two alpha-thal). The most common mutation was the nonsense Cd 39 observed in seven chromosomes (28%); the other mutants were three Asian alleles, one beta-thal Indian (IVS-1 nt 5 G-->C), two Southeast Asian alpha-thal (-SEA and the -FIL), one Kurdish Jew (-28 A-->C) and one Mexican (Cd 11 -T). These findings suggest a marked molecular heterogeneity in the thalassemia genes in Mexico.
我们对墨西哥混血儿中观察到的地中海贫血等位基因进行了分析。在18例患有轻度至重度溶血性贫血的非亲属患者中，我们发现16例为β地中海贫血，2例为α地中海贫血，并鉴定出25条染色体带有14种不同的等位基因（10种为β地中海贫血），其中地中海型占主导（7种β地中海贫血和2种α地中海贫血）。最常见的突变是在7条染色体（28%）中观察到的无义Cd 39；其他突变体包括3种亚洲等位基因、1种印度β地中海贫血（IVS-1 nt 5 G→C）、2种东南亚α地中海贫血（-SEA和-FIL）、1种库尔德犹太人（-28 A→C）和1种墨西哥人（Cd 11 -T）。这些发现表明墨西哥地中海贫血基因存在明显的分子异质性。
