Basu P, Gangopadhaya P K, Murkherjee S C, Sinha K K, Bhattacharyya N P
Crystallography and Molecular Biology Division Saha Institute of Nuclear Physics, 1/AF, Bidhan Nagar, Calcutta-700 064, India.
Hum Mutat. 1999;13(1):84. doi: 10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU15>3.0.CO;2-U.
To determine the founder of Indian myotonic dystrophy mutation, we have studied the expansion of CTG repeats in myotonin protein kinase gene and two intragenic linked loci Alu(ins) / Alu(del) and G/T intron 9 HinfI polymorphism in ten unrelated DM patients from eastern India. Out of these ten patients, reconstruction of haplotype was possible for five patients unambiguously. In the other five cases, haplotype for the normal allele was assumed to be the most common haplotype found in normal individuals from Indian populations. Such analysis showed that in nine cases, the expansion of CTG repeats took place on Alu(ins)-HinfI-2 background indicating common founder with other DM mutation published. However, in one case we observed a different haplotype [Alu(ins)-HinfI-1] which could be a new mutation or due to admixture.
为了确定印度强直性肌营养不良突变的起源，我们研究了来自印度东部的10名无亲缘关系的强直性肌营养不良患者中肌强直性蛋白激酶基因中CTG重复序列的扩增情况，以及两个基因内连锁位点Alu（插入）/Alu（缺失）和G/T内含子9 HinfI多态性。在这10名患者中，有5名患者的单倍型得以明确重建。在另外5例中，正常等位基因的单倍型被假定为印度人群正常个体中最常见的单倍型。此类分析表明，在9例中，CTG重复序列的扩增发生在Alu（插入）-HinfI-2背景上，表明与已发表的其他强直性肌营养不良突变有共同的起源。然而，在1例中我们观察到了不同的单倍型[Alu（插入）-HinfI-1]，这可能是一个新的突变，或者是由于基因混合所致。
