河南省β地中海贫血基因突变类型的检验研究

The study of detection of beta-thalassemia mutation in Henan

目的 :探讨河南省 β地中海贫血基因突变类型及其基因诊断方法。 方法 :本研究综合应用突变引物延伸扩增 (MOEA)及巢式PCR等新技术 ,设计了针对中国人 β地贫最常见的 5种基因突变的检测方法。 结果 :完成了河南籍 8个家系成员的基因筛查诊断 ,14条 β地贫阳性染色体的检测结果为 :IVS Ⅱ 65 4(C→T) 5条 ,CD41 42 ( TTCT) 3条 ,TATAbox 2 8/ 2 92条 ,CD17(A→T) 2条 ,另 2条染色体突变性质不清。检出率达 85 7%。对 1例高危胎儿作了产前诊断 ,基因型分另为CD41 42 /A ,建议继续妊娠 ,经产后取材验证 ,结果与产前诊断一致。结论 :提示河南省 β地贫基因突变的种类与频率和我国南方诸省基本相同。应用本文设计的方法可对 90 %以上中国人 β地贫快速作出基因诊断和产前诊断 。

Objective: To study the class of betathalassemia mutationsin Henan.Methods: On basis of mutant oligonucleotide extension amplification(MOEA) and nested PCR technique,We developed a new method for the detection of five most common beta thalassemia mutations in Chinese in the present research. Results: 8 families from Henan affected with beta thalassemia were analysed by the method. 14 Beta thalassemia chromosomes were detected, including 5 chromosomes with IVS Ⅱ 654,3 with CD41 42,2 with 28 or 29, 2 with CD17, 2 chromosomes were not identified by the method. Prenatal diagnosis were preformed for 1 fetuses at risk of homozygous beta thalassemia:the genttype was CD41 42/A. Conclusion: Our study showed that the class and the rate of beta thalassemia mutations in Henan was samiliar to that in southern provinces in Chinses.