Agarwal S, Naveed M, Gupta U R, Kishore P, Agarwal S S
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow.
Indian J Med Res. 1994 Sep;100:106-10.
As an initial step towards establishing prenatal diagnostic service for beta-thalassaemia in the state of Uttar Pradesh, we have investigated the prevalence of five common mutations reported from India in 57 families, each with an index patient of thalassaemia major, by amplification refractory mutation system (ARMS). Thirtyone of the 57 families (54.3%) hailed from Uttar Pradesh; 11 (19.3%) from Sindh in Pakistan, 6 (10.5%) from Punjab, 6 (10.5%) from North-West Pakistan and one each (1.8%) from Bengal, Madhya Pradesh and Bihar. In the 31 families from Uttar Pradesh, 29 were of beta-thalassaemia and 2 of HbE/beta-thalassaemia. IVS-1 nt 5 (G-C) mutation was the most common mutation in families native to Uttar Pradesh. This mutation was identified in 60 per cent (33 out of 55) of the obligate heterozygotes. Amongst the 43 obligate heterozygote carriers originating from Western India, the prevalence of IVS-1 nt 5 (G-C) mutation was 46.5 per cent; 619 bp deletion 23.3 per cent; Co 8/9 (+G) mutation 11.6 per cent and Co 41/42 (-CTTT) mutation 4.6 per cent. In 23.6 per cent of carriers from Uttar Pradesh and 7.0 per cent of carriers from Western India, none of the 5 mutations tested were detected. IVS-1 nt 1 (G-T) mutation was found in one family native to Sindh.
作为在北方邦建立β地中海贫血产前诊断服务的第一步，我们通过扩增阻滞突变系统（ARMS），对印度报道的5种常见突变在57个家庭中的流行情况进行了调查，每个家庭都有一名重型地中海贫血先证者。57个家庭中，有31个（54.3%）来自北方邦；11个（19.3%）来自巴基斯坦的信德省，6个（10.5%）来自旁遮普邦，6个（10.5%）来自巴基斯坦西北部，还有1个（1.8%）分别来自孟加拉邦、中央邦和比哈尔邦。在来自北方邦的31个家庭中，29个是β地中海贫血，2个是HbE/β地中海贫血。IVS-1 nt 5（G-C）突变是北方邦本地家庭中最常见的突变。在60%（55个中的33个）的 obligate杂合子中发现了这种突变。在来自印度西部的43个 obligate杂合子携带者中，IVS-1 nt 5（G-C）突变的流行率为46.5%；619 bp缺失为23.3%；Co 8/9（+G）突变为11.6%；Co 41/42（-CTTT）突变为4.6%。在来自北方邦的携带者中，23.6%以及来自印度西部的携带者中，7.0%未检测到所测试的5种突变中的任何一种。在一个来自信德省的本地家庭中发现了IVS-1 nt 1（G-T）突变。
