摘要
目的了解闽南地区α和β地中海贫血（地贫）的基因突变类型和频率，为地贫的基因诊断和遗传咨询提供参考。方法用聚合酶链反应（PCR）、反向斑点杂交（RDB）及测序技术对1065例疑诊为地贫患者进行地贫基因分析。结果地贫患者检出率为56．06％（597／1065）。α地贫340例，其中216例为东南亚缺失型杂合子（αα／-SEA）、42例α3.7缺失型杂合子（αα／-α3.7）、5例α3.7缺失型杂合子（αα／-α4.2）、αα／αCSα、αα／αQSα、αα／αwSα突变杂合子各2例、血红蛋白H病71例（-α／-SEA59例，-α4.2／--SEA2例，αCSα／-SEA10例）；β地贫255例（IVS-Ⅱ-654杂合子108例，CD41-42杂合子101例，纯合子1例，CD17杂合子30例，-28M杂合子10例，CD71-72（＋A）杂合子2例，IntM3例）；α与β复合地贫2例．包括1例αα／-α3.7联合CD41-42M突变杂合子和1例αα／αWSα联合IVS-Ⅱ-654突变杂合子。结论初步阐明闽南地区α与β地贫的基因突变类型和频率，有必要在闽南地区开展地贫基因检测和产前诊断。
Objective To explore the type and frequency of gene mutation in patients with α and β thalassemia in southern Fujian province of China in order to provide foundation for gene diagnosis and genetic counseqng about thalassemia Methods The type and frequency of gene mutation in 1 065 patients who e suspected of having thalassemia were analyzed by PCR, reverse dot blot （RDB） and sequencing. Results The positive rate of thalassemia was 56.06% （597/1065） There were 340 cases of a thalassemia, including 216 cases of αα/-SEA, 42 cases ofα3.7 deletion type αα/α3.7 （1 case of homozygote） , 5 cases of α4. 2 deletion type αα/-α4.2 and each 2 cases of αα/αCSα、αα/αQSα、αα/αwSα, 71 cases of hemoglobin H disease （59 cases of-α3.7/-SEA, 2 cases of -α4.2/-SEA and 10 cases of αCSα/-SEA） . There were 255 cases of b thalassemia, including 108 cases of IVS- II-654 heterozygote, 102 cases of CD41-42 heterozygote, 1 case of homozygote, 30 cases of CD17 heterozygote, 10 cases of-28M heterozygote, 2 cases of CD71-72 （ ＋ A） heterozygote and 3 eases of IntM heterozygote. There were 2 cases of a and b thalassemia, including 1 ease of αα/α 3. 7 and CD41-42M double heterozygote and 1 ease of αα/αWSα and IVS-II-654 double heterozygote. Conclusion This study preliminarily examined the type and frequency of gene mutation of thalassemia in southern Fujian province. We believe it is necessary to carry out gene mutation screening and prenatal diagnosis of thalassemia in this region.
出处
《医学分子生物学杂志》
CAS
2014年第1期22-25,共4页
Journal of Medical Molecular Biology
基金
福建省自然科学基金青年项目（No.2011D012）
关键词
地中海贫血
基因检测
产前诊断
thalassemia
genetic testing
prenatal diagnosis
作者简介
通讯作者：沈关心（电话：027—83692640，E-mail：shenguanxin@hust．edu．cn
