中国人少见的β地中海贫血基因突变一家二例报告  

Detection of a rare codon 37(TGG→TGA) mutation of the β-globin gene in a Chinese family.

作　　者：钟惠珠[1] 谢杏梅[1] 李冬至[1] 

机构地区：[1]广东省广州市妇婴医院优生围产研究所,510180

出　　处：《中国优生与遗传杂志》2009年第1期37-38,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的报道1例中国人少见的β地中海贫血基因突变及其产前诊断结果。方法采用PCR产物直接DNA序列分析法对1例父亲和胎血标本进行检测。结果父亲和胎儿均携带一种中国人少见的β地中海贫血基因突变CD 37(TGG→TGA)。结论β地中海贫血基因37(TGG→TGA)突变的报道,丰富了中国人β地中海贫血基因突变谱,对于指导人群筛查、遗传咨询和产前诊断具有重要价值。Objective： To present the first description of a Chinese family with a rare β -thalassemia mutation commonly observed in Arabs. Methods： The β - globin gene was amplified by PCR and the PCR product was analyzed by direct nucleotie sequencing. Results： The father and the fetus were heterozygous for a codon 37 （TGG→TGA） mutation. Conclusions： This mutation could be added to the more than 30 different β - thalassemia mutations that have been identified among Chinese population so far.

关 键 词：Β地中海贫血 基因突变 

分 类 号：R556.71[医药卫生—血液循环系统疾病]