摘要
目的探讨贵阳地区孕妇人群地中海贫血（简称地贫）筛查的阳性率和基因突变的类型及其分布特征。方法应用红细胞参数分析和血红蛋白电泳对孕妇进行地贫产前筛查。对表型阳性者用单管多重PCR和PCR结合反向点杂交（PCR—reverse dot blot，PCR—RDB）技术检测中国人群中常见的α和β-地贫基因突变类型。罕见突变和未知突变采用DNA直接测序法进行检测。结果在13738例孕妇中，表型阳性者有1745例，筛查阳性率为12．70％。按籍贯统计，地贫筛查阳性率较高的省区依次为广西、广东、江西及贵州；按民族统计，地贫筛查阳性率较高的民族依次为壮族、黎族及布依族。有801例表型阳性者进行了基因检测，其中457例确诊为地贫，确诊率为57．05％。共检出9种α-地贫基因型，其中--SEA／αα最多，占63．35％，其次是-α3.7／αα和-α4.2／αα，分别占19．37%和8．90％；检出11种β-地贫基因型，所占比例较高的基因型为：CD17／N（42．91％）、CD41—42／N（32．46％）和IVS-Ⅱ-654／N（11．94％）;检出β-地贫罕见突变CD54—58／N和IVS-I-130／N各1例。结论贵阳地区孕妇人群地贫筛查阳性率较高，不同籍贯和民族的筛查阳性率差异较大；地贫基因突变类型多样，突变谱与其他地区有一定差异。
Objective To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. Methods Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR- reverse dot blot hybridization were performed on suspected cases to identify common α- and β- thalassemia mutations, and direct sequencing was used for identifying rare mutations. Results Among 13 738 pregnant women, 1745 （12.70%） were suspected as thalassemia. In terms of native place, the provinces with highest screening-positive rates were Guangxi, Guangdong, Jiangxi and Guizhou. And the ethnic groups with highest screening-positive rates were Zhuang, Li, and Buyi. Among 801 women subjected to genetic testing, 457 （57. 05%） were diagnosed with thalassemia. In total 9 genotypes of 5-thalassemia were detected, with the most common genotypes being --SEA/αα （ 63. 35 %）, -α3.7/sex （ 19. 37 %） and -α4.2/αα （8.90 %）. Eleven genotypes of β-thalassemia were detected, with the most common genotypes being CD17/ N （42.91%）, CD41-42/N （32.46%） and IVS-II-654/N （11.94%）. Two cases were detected with rare β- thatassemia mutations （CD54-58/N and IVS-I-130/N）. Conclusion The screening-positive rate of thalassemia among pregnant women in Guiyang region is relatively high. The rates have shown substantial difference in terms of native place and ethnic group. Thalassemia-related mutations in Guizhou region have a diverse spectrum, which showed certain difference from those of other regions.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2017年第4期588-591,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（81260089）
贵州省科学技术基金项目（黔科合J字[2015]2091号）
关键词
地中海贫血
产前筛查
基因检测
贵阳地区
Thalassemia
Prenatal screening
Genetic testing, Guiyang region
作者简介
通信作者：黄盛文，Email：hsw713@sina．com
