摘要
目的通过两例脊髓性肌萎缩症(SMA)产前诊断病例总结脊髓性肌萎缩症的致病特点及产前基因诊断方法,为遗传咨询提供指导依据。方法综合分析有SMA孕产史的孕妇两例,通过了解其妊娠史后检测夫妻双方的SMNt基因携带情况,于本次妊娠的孕中期行羊水穿刺并联合聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP),做出产前诊断并对该疾病进行产前咨询及遗传指导分析。结果两例孕妇本次妊娠均检测为胎儿的非5号染色体上SMNt基因外显子7和外显子8纯合型缺失,排除为SMA患儿。结论根据父母SMNt基因的携带者类型,选择合适的脊髓性肌萎缩症的产前基因诊断方法,评估其本次生育SMA患儿的风险,对SMA携带人群进行遗传指导,可以降低SMA患儿的出生率。
Objective：Conclusion of pathogenic characteristics and prenatal genetic diagnostic method of spinal muscular atrophy through two cases of SMA in order to provide basis of genetic counseling. Method：Comprehensive analysis of two cases of pregnant women who had babied with SMA some years ago is made,using amniocentesis and PCR-RLFP method in the second trimester by having realized their maternity histories and detected the SMNt gene in both husbands and wives,with the aim of giving instructive prenatal diagnosis and making prenatal genetic counseling guidance. Result：The two gravidas are not exome 7 and exome 8 homozygous lacking in chromosome 5 in this pregnancy. Conclusion：According to the carrier genotype of SMNt of parents,choosing a suitable detection method to prenatal diagnosis of SMA,assessment of the risk of having a baby with SMA,making genetic counseling guidance on the SMA carriers,all of these approaches can decrease the birth rate of children with SMA.
作者
冯春
郑芳
彭剑虹
杜二球
张元珍
FENG Chun ZHENG Fang PENG Jian-hong DU Er-qiu ZHANG Yuan-zhen(Department of Obstetrics and Gynecology of Zhongnan Hospital of Wuhan University, Hubei Provencial Key Laboratory of Developmental Originated Diseases, Wuhan 430071 Genetic Diagnostic Centre of Zhongnan Hospital of Wuhan University, Department of Prenatal Diagnostic and Birth Health Scientific Centre of Zhongnan Hospital of Wuhan University, Wuhan 430071)
出处
《中国优生与遗传杂志》
2017年第10期94-96,119,共4页
Chinese Journal of Birth Health & Heredity
