Abstract：
β-thalassemia is a prevalent inherited red cell disorder in the Kurdistan region of Iraq. To determine the chromosomal background of the frequent β-thalassemia mutations in the latter region, we investigated the β-globin gene cluster haplotypes in 202 β-thalassemia chromosomes. Haplotypes analysis utilized restriction fragment length polymorphism-PCR of seven restriction sites through the β-globin gene cluster. It was observed that IVS-II-1 (G > A) was mainly associated with haplotype III (68.8%), IVS-1-110 (G > A), codon 8/9 (+G) and codon 44 (-C) with haplotype I (in 90.0%, 100%, and 62.5% respectively), IVS-1-6 (T > C) with haplotype VI (97.4%), codon 8 (-AA) with haplotype IV (75%), codon 5(-CT) and IVS1.1 (G > A) with haplotype V (55.6% and 58.3% respectively), while codon 39 (C > T) and IVS1.5 (G > C) were mainly associated with haplotype VII (85.7% and 75% respectively). These observations support the notion that while some mutations may have originated in the Kurdistan region, others were more likely brought in by gene flow from neighboring countries or the Indian subcontinent. The association of some β-thalassemia defects with more than one haplotype may be due to mutations or recombination events.
摘要：
β-地中海贫血是伊拉克库尔德斯坦地区普遍存在的遗传性红细胞疾病。为了确定后者区域中常见的β-地中海贫血突变的染色体背景，我们研究了202条β-地中海贫血染色体中的β-珠蛋白基因簇单倍型。单倍型分析利用限制性片段长度多态性-通过β-珠蛋白基因簇对七个限制性位点进行PCR。观察到IVS-II-1(G>A)主要与单倍型III(68.8%)相关,IVS-1-110（G>A），密码子8/9（+G）和密码子44（-C）与单倍型I（90.0％，100%,和62.5%），IVS-1-6（T>C）单倍型VI（97.4%），密码子8（-AA）与单倍型IV（75％），密码子5（-CT）和IVS1.1（G>A）具有单倍型V（分别为55.6％和58.3％），密码子39(C>T)和IVS1.5(G>C)主要与单倍型VII相关(分别为85.7%和75%)。这些观察结果支持这样的观点，即虽然一些突变可能起源于库尔德斯坦地区，其他人更有可能是由邻国或印度次大陆的基因流动带来的。一些β-地中海贫血缺陷与多于一种单倍型的关联可能是由于突变或重组事件。
