新疆地区16例β-地中海贫血的基因鉴定

An analysis at gene of sixteen cases with β-thalassemia in Xinjiang region

本实验应用PCR/ASO技术对新疆地区16例β-地中海贫血症患者进行了基因分析,并将其鉴定为IVS-Ⅱ-654(C→T)基因突变,均为杂合子,其中汉族11例,回族4例,维吾尔族1例。在回族中这种突变类型属首次报道,实验结果对了解这一突变类型在我国的分布特点提供了有意义的资料。

In this study the gene of 16 cases with β-thalassemia in Xinjiang region was analysed by PCR/ASO technique. IVS- Ⅱ -654 (C→T) has been identified as a gene mutation, among which there was a heterozygote in eleven cases from Han nationality, four cases from Hui nationality and one case from Uygur nationality. This mutant was firstly reported in Hui nationality. Results of this study could provide a meaningful material for understanding the distribution of this gene mutation in our country.