中国福建省福州地区地中海贫血孕妇基因类型分析

Genotype Analysis of Pregnant Women with α-and β-Thalassemia in Fuzhou Area of Fujian Province in China

目的:研究中国福建省福州地区地中海贫血孕妇基因类型。方法:对孕妇进行血常规检测或血红蛋白电泳检测,阳性者采用跨跃断裂点PCR技术及PCR-反向点杂交法进行α地中海贫血基因检测,采用PCR-反向点杂交法进行β地中海贫血基因检测。结果:645例确诊为地中海贫血孕妇中,412例为α地中海贫血(63.9%);201例为β地中海贫血(31.2%);32例α/β复合地中海贫血(4.9%)。α地中海贫血基因检测中共检测出12种基因型,--SEA/αα最为常见(265例,64.32%),其后依次为α3.7/αα83例(20.14%),-α4.2/αα32例(7.77%),αQSα/αα8例(1.94%);β地中海贫血基因检测中共检测出10种基因型,CD41-42/N最为常见(62例,30.84%),其后依次为CD17/N 56例(27.86%),IVS-II-654/N 32例(15.92%),-28/N 21例(10.45%);α/β复合地中海贫血基因检测中共检测出9种复合基因型,--SEA/αα复合CD41-42/N最为常见(6例,18.75%),其后依次为-α3.7/αα复合CD41-42/N 5例(15.62%),--SEA/αα复合CD17/N 5例(15.62%)。结论:中国福建省福州地区孕妇α、β地中海贫血基因型主要为--SEA/αα、α3.7/αα、CD41-42/N及CD17/N等。对福建省福州地区孕妇应加强地中海贫血筛查及产前基因诊断。

Objective:To analyze the genotype of pregnant women withα-andβ-thalassemia in Fuzhou area of Fujian province in China.Methods:Blood routine examination and hemoglobin electrophoresis were performed for pregnant women,and positive samples were examined by gap polymerase chain reaction and reverse dot blot hybridization.Results:412 cases were diagnosed asα-thalassemia(63.9%);201 cases were diagnosed asβ-thalassemia(31.2%);32 cases were diagnosed asαandβ-composite thalassemia.There were 12 genotypes inα-thalassemia,whose major genotypes were--SEA/αα,α3.7/αα,-α4.2/ααandαQSα/αα,with carrying rate of 64.32%,20.14%,7.77%and 1.94%,respectively.There were 10 genotypes inβ-thalassemia,whose major genotypes were CD41-42/N,CD17/N,IVS-II-654/N and-28/N,with carrying rate of 30.84%,27.86%,15.92%and 10.45%,respectively.There were 9 genotypes inαandβ-composite thalassemia,whose major genotypes were--SEA/ααcomposited CD41-42/N,-α3.7/ααcomposited CD41-42/N,--SEA/ααcomposited CD17/N,with carrying rate of 18.75%,15.62%,15.62%respectively.Conclusion:The major genotypes of pregnant women withα-andβ-thalassemia in Fuzhou area of Fujian province in China are--SEA/αα,α3.7/αα,CD41-42/N and CD17/N.Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China.