摘要
目的探讨甲型血友病(hemophilia A,HA)型血友病基因携带者检出及产前诊断的准确性和诊断率。方法 12个HA家系66名成员和2名胎儿,采集外周血或脐血,采用FⅧ基因第13内含子的(CA)n重复多态性、第18内含子内Bcl-1位点和第22内含子内Xba-1位点的多态性连锁分析进行间接基因诊断和产前基因诊断。结果 12个HA家系筛查成功率为100%,12个HA家系中41名女性成员,其中27例确定为HA致病基因携带者,14名排除携带状态;对其中2个家系的2名胎儿进行产前诊断,1例诊断为血友病基因携带者,1例诊断为血友病患儿,建议终止妊娠。结论联合采用上述3个多态位点可对HA家系作出快速、准确的基因诊断和产前基因诊断。
Objective To explore the detection of hemophilia A（HA）gene carriers,prenatal diagnosis accuracy and diagnostic rate.Methods Totally 66 family members and 2 fetuses from 12 HA pedigrees were collected peripheral blood or cord blood.The（CA）n repeat polymorphism in the 13 th intron in FⅧ gene,polymorphism linkage analysis restriction Bcl-1 site in the 18 th intron and Xba-1 restriction site in the 22 th intron were adopted to conduct indirect gene diagnosis and prenatal gene diagnosis.Results The genetic scanning rate was 100% in 12 HA pedigrees.There were 41 female members in 12 HA pedigrees,in which 27 were identified as carriers of HA disease genes,and 14 were not the carriers.Two fetuses from 2HA pedigrees received prenatal diagnosis,in which one fetus was diagnosed with carrier of hemophilia gene and the other was diagnosed with hemophilia and was suggested to terminate pregnancy.Conclusion The combined use of the above three polymorphic sites can make a fast and accurate genetic diagnosis as well as prenatal genetic diagnosis for HA pedigree.
出处
《中华实用诊断与治疗杂志》
2016年第4期352-354,共3页
Journal of Chinese Practical Diagnosis and Therapy
基金
广东省深圳市科技局资助项目(JH200507120880A)
关键词
甲型血友病
基因诊断
连锁分析
Hemophilia A
genetic diagnosis
linkage analysis
