摘要
目的 :建立多重聚合酶链反应 (PCR)方法 ,对广西地区α地中海贫血 Hb H病进行基因诊断。方法 :外周血提取 DNA,应用多重 PCR、DNA测序等方法进行α地中海贫血基因型诊断。结果 :2 98例 Hb H病患者检出 1 5 4例缺失型 Hb H病 (-α3.7缺失型 Hb H病 1 0 4例 ,-α4 .2 缺失型 Hb H病 5 0例 ) ;非缺失型 Hb H病 1 4 4例包括 1 38例 Hb CS- H病 ,5例 Hb QS- H病及 1例罕见的东南亚缺失型 α地中海贫血 - 1复合 α2珠蛋白基因密码子 30缺失。基因型检测结果提示缺失型 Hb H病占 5 1 .6 8% ,非缺失型 Hb H病占 4 1 .32 %。而非缺失型 Hb H病中 ,以 Hb CS- H病为主 ,占非缺失型的 95 .83%。结论 :文中所建立的单管多重 PCR方法可同时检测 4种缺失型和 2种非缺失型 α地贫基因型 ,操作简便、快速 。
Objective:To set up multiplex PCR methods for detecting genotypes of α thalassemia Hb H disease in Guangxi province.Methods:Obtaining DNA from Peripheral blood, using multiplex PCR method and DNA sequencing to diagnose α thalassemia genotypes.Result:Among 298 cases of Hb H disease, there were 154 cases with deletional Hb H disease ( α 3 7 deletional Hb H disease 104, while α 4 2 deletional 50); 144 with non deletional Hb H disease including Hb CS H 138, Hb QS H 5 and 1 rare genotype with Southeast Asian Type α thalassemia 1 combining with the deletion at codon 30 of α2 globin gene. The results of genotypes in 298 Hb H diseases showed deletional Hb H disease accounting for 51 68%, while non deletional 41 32%. The most common non deletional Hb H disease was Hb CS H, accounting for 95 83% in non deletional type.Conclusion:The multiplex PCR methods can detect four kinds of deletional and two kinds of non deletional genotypes of α thalassemia. It is simple, reliable and easy to be practiced.
出处
《广西医科大学学报》
CAS
2004年第2期173-176,共4页
Journal of Guangxi Medical University
