摘要
目的探讨临床普遍认为可导致β地贫的β珠蛋白基因5′端非翻译区+(43-40)(-AAAC)4bp缺失(亦称CAP突变)是否具有遗传学效应,为β珠蛋白基因功能研究和地贫临床基因诊断提供临床和理论依据。方法应用反向点杂交和DNA序列测定确诊四个携带此缺失的先证者,对先证者及其家系核心成员进行血液学分析和基因诊断,同时将各项检查结果与首例报道病例进行对比分析。结果+(43-40)(-AAAC)4bp缺失杂合子无明显贫血症状,与β珠蛋白基因其他突变方式合并存在病例无严重贫血症状,与首例报道明显不同。结论β珠蛋白基因5′端非翻译区+(43-40)(-AAAC)4bp缺失没有明显的遗传效应,对基因的表达和生物学功能很可能没有影响。此研究为β珠蛋白基因生物学功能研究提供了更丰富的资料;对β地中海贫血群体筛查具有指导性意义。
Objective ： To investigate the genetic effect of ＋ （43 - 40） （ - AAAC） 4bp deletion （ CAP mutation） in the 5＇ UTR of human β - globin gene, and to offer theoretical and clinical basis for gene diagnosis and the function study of β - globin gene. Methods： Reverse dot blot （RDB） and DNA sequencing were performed to diagnose the genotype of 4 probands and their family＇s members. The haematological indices of all members were tested, and contrasted with the case in the fist report. Results ： The heterozygotes of ＋ （43 -40） （ - AAAC） 4bp deletion were not found obvious manifestation of anaemia; the compound heterozygotes of this mutation and a second severeβ -thalassaemia mutation were not found serious symptom of anaemia, which was significantly different with the first case report. Conclusion： ＋ （43 -40） （-AAAC） 4bp deletion probably did not affect expression and biological function of β- globin gene, and did not induceβ -thalassaemia; This data helps to study the biological function of β-globin gene and would be guidance for the population screening of β- thalassaemia.
出处
《中国优生与遗传杂志》
2009年第9期22-23,30,共3页
Chinese Journal of Birth Health & Heredity
