摘要
目的分析厦门地区β地中海贫血基因突变类型及其频率,探讨β地中海贫血产前基因诊断的意义。方法2006年3月至2007年2月,对在本院遗传咨询门诊就诊,怀疑有地中海贫血的249例患者,应用聚合酶链反应反向斑点杂交(PCR-RDB)技术进行β地贫基因检测,对夫妻双方均确诊为β地贫的孕妇采用超声介导下羊膜腔穿刺术或脐血穿刺术进行产前基因诊断。结果249例患者中检测到7种基因突变类型,其中654M/N 26例,占42.6%,41-42M/N 25例,占41.0%,17M/N 4例,占6.5%,71-72M/N 2例,占3.2%,-28M/N 2例,占3.2%,-29M 1例,占1.6%,27/28M1例,占1.6%。发现三对已妊娠的夫妻均患有轻型β地贫,并进行β地贫产前基因诊断,确诊2例胎儿为重型β地贫,1例为轻型β地贫。结论研究结果为在厦门地区开展β地中海贫血的遗传咨询和产前诊断提供了有价值的基础资料,产前诊断是阻止该病重症患儿出生的最有效手段。
Objective ： To investigate the genic mutation types and frequency of β- thalassemia in Xiamen area, and explore the significance about prenatal diagnosis of β- thalassemia. Methods ： From March 2006 to February 2007, 249 patients were analyzed for β- thalassemia genic mutation with reverse dot blot （ PCR - RDB）, and prenatal diagnosis were done on both of the couples were β- thalassemia carries by amniocentesis or cordocentesis. Results ： 7 types of genic mutation were detected, including 654M/N 26 cases （ 42.6% ）, 41 - 42M/N 25 cases （41.0%）, 17M/N 4 cases （6. 5 % ）, 71 - 72M/N 2 cases （ 3.2% ）, - 28M/N 2 cases （ 3.2% ）, -29M 1 case （ 1.6% ）, 27/28M 1 case （ 1.6% ）. Prenatal diagnosis were done on 3 couples with both β- thalassemia carries, and 2 fetuses were found with severe β- thalassemia. Conclusion ： The results are significant of developing genetic counseling and prenatal diagnosis of β- thalassemia in Xiamen area. Prenatal diagnosis is the best effective measure to prevent severe β- thalassemia fetus to born.
出处
《中国优生与遗传杂志》
2007年第12期25-26,共2页
Chinese Journal of Birth Health & Heredity
基金
厦门市卫生局科研课题资助(项目编号:WSK0532)
