Baig Shahid Mahmood, Azhar Ayesha, Hassan Hammad, Baig Jamshaid Mahmood, Kiyani Ayesha, Hameed Uzma, Rabbi Fazli, Bokhari Habib, Aslam Muhammad, Ud Din Mohammad Amin, Baig Shehla Anjum, Hassan Khalid, Qureshi Javed Anwar, Zaman Tariq
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Haematologica. 2006 Mar;91(3):ELT02.
We present here an analysis of 888 unrelated beta-thal chromosomes consisting of 444 transfusion dependent children from various regions of Punjab and Islamabad Pakistan. By using Multiplex ARMS- PCR, restriction endonuclease analysis, allele specific oligonucleotide (ASO) hybridization and sequencing, 17 beta-thal mutations and 3 Hb variants were detected in 99.5 % (884/888) of the chromosomes analyzed. First trimester prenatal diagnosis by chorionic villus sampling (CVS) was also carried out in seven pregnancies at risk of beta-thalassemia. Our results indicate that three most common mutations accounted for 86.8% of the beta-thal alleles in this region. These findings have important implications for prevention of beta-thalassemia through genetic counseling and prenatal diagnosis in this part of Pakistan.
我们在此呈现对888条无关β-地中海贫血染色体的分析，这些染色体来自巴基斯坦旁遮普邦和伊斯兰堡不同地区的444名依赖输血的儿童。通过使用多重扩增不应变突变系统聚合酶链反应（Multiplex ARMS-PCR）、限制性内切酶分析、等位基因特异性寡核苷酸（ASO）杂交和测序，在99.5%（884/888）的分析染色体中检测到17种β-地中海贫血突变和3种血红蛋白（Hb）变体。还对7例有β-地中海贫血风险的妊娠进行了孕早期绒毛取样（CVS）产前诊断。我们的结果表明，该地区三种最常见的突变占β-地中海贫血等位基因的86.8%。这些发现对通过遗传咨询和产前诊断预防巴基斯坦这一地区的β-地中海贫血具有重要意义。
