南宁地区中间型地中海贫血基因型与表现型分析

目的系统分析南宁地区中间型地中海贫血的基因型特征,通过临床回顾性研究表型和基因型的关系。方法应用琼脂糖凝胶电泳反向点杂交和Gap-PCR技术对检测167例样本的基因型和表型并进行分析。结果在167例样本中检测出130例为中间型α-地中海贫血。37例是中间型β-地中海贫血。其中包括了11例双重杂合子和26例具有表型的杂合子。结论中间型地中海贫血的分子遗传学机制有高度的异质性,其在南宁市的流行分布为该地区的遗传咨询和产前诊断提供依据。

Analysed the phenotype and geneotype of thalassemia intermedia in Nanning

Objective ： To research the characteristic of gene mutation in thalassemia interrnedia and to analyse Genotype - phenotype correlations based on retrospective clinical observations. Methods ： Agarose gel electrophoresis, RDB and Gap - PCR was applied to detect genotype and phenotype in 167 case of thalassemia. Result： There were 130 was identifed as α- thalassemia intermedia. 37 was determined as β - thalassemia intermedia Among β - thalassemia intermedia 26 case were heterozygous with intermedia phenotype, 11 case were compound heterozygosity for β^0 or β^ ＋. Conclusion： The molecular defects of thalassemia interrnedia in Nanning were highly heterogeneous and its spectrum was useful to genetic consult and prenatal diangnosis in thalassemia.