南宁地区中间型地中海贫血基因型与表现型分析  

Analysed the phenotype and geneotype of thalassemia intermedia in Nanning

作　　者：陈科[1] 郑陈光[1] 杜娟[1] 许涓涓[1] 唐斌[1] 

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003

出　　处：《中国优生与遗传杂志》2012年第9期20-21,89,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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。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.

关 键 词：中间型地中海贫血 基因型 表现型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]