东南亚缺失型α地中海贫血1复合血红蛋白CS家系基因突变检测的方法学探讨  

Methodological Study for Detecting Gene Mutation of Family with Genotyping of Compound Heterogenicity of SEA Alpha-thalassemia 1 and HbCS

作　　者：陈建[1] 罗比[2] 漆著[2] 霍沛丹[2] 张权生[1] 汪红[1] 

机构地区：[1]成都中医药大学基础医学院生化教研室,四川成都610075 [2]成都中医药大学附属第二医院,四川成都610041

出　　处：《中国实验血液学杂志》2010年第3期675-678,共4页Journal of Experimental Hematology

摘　　要：本研究旨在应用PCR与PCR-RFLP(限制性片段长度多态性)相结合的方法,检测东南亚缺失型(South-East Asian,SEA)α地中海贫血1(——SEA/)和HbCS(Constant Spring血红蛋白)基因突变,并探讨其应用价值。先用PCR方法检测α地中海贫血患儿家庭成员的SEA缺失型基因突变,再用PCR-RFLP方法进行血红蛋白CS(HbCS)点突变的筛查。结果表明:从7个家庭19名成员中检出15人为α-地中海贫血(——SEA/)携带者,2个家庭为合并的α-地中海贫血1与血红蛋白CS的双重杂合(——SEA/αCSα)家系。结论:PCR结合PCR-RFLP方法可简便、快速、准确地检测基因型为——SEA/αCSα的Hb H病。This study was aimed to establish a method of PCR combinating with PCR-RFLP for detecting the South- East Asian （SEA） deletion type α-thalassemia 1 and non-deletion mutation of Hb Constand Spring （CS）, and to investigate the appliation value of this method. For the members of the families with α-thalassemia, SEA deletion mutation was detected by PCR, then the HbCS point mutation was screened by PCR-RFLP. The results indicated that 15 carriers with α-thalassemia （-SEA/） were found in 19 members from 7 families, and 2 families with genotype of--^SEA/α^csα were screened out successfully. It is concluded that the PCR combinating with PCR-RFLP is a simple, rapid, and reliable method for screening HbH disease with genotype of --^SEA/α^csα.

关 键 词：Α地中海贫血 血红蛋白H病 东南亚缺失型α地中海贫血 血红蛋白CS 

分 类 号：R556.61[医药卫生—血液循环系统疾病]