基于脐带血和短串联重复序列分析的脊髓小脑共济失调3型产前诊断  

Prenatal diagnosis of spinocerebellar ataxia type 3 based on umbilical cord blood and short tandem repeat analysis

作　　者：顾卫红[1] 黄醒华[2] 王国相[1] 郝莹[1] 王欣[2] 杜皓萍[1] 杨斯柳[1] 

机构地区：[1]卫生部中日友好医院神经内科,北京100029 [2]首都医科大学北京妇产医院产科

出　　处：《中华神经科杂志》2008年第12期848-850,共3页Chinese Journal of Neurology

摘　　要：目的探讨脊髓小脑共济失调3型（SCA3）的产前诊断方法。方法对1个SCA3家系女性先证者的胎儿进行产前检测，于妊娠20周抽取脐带血进行胎儿DNA提取，采用PCR和基于CEQ8000核酸分析仪的短串联重复序列分析技术进行SCA3基因CAG重复序列动态突变检测。结果先证者SCA3基因CAG重复数目为31／75次，其配偶CAG重复数目为14／27次，胎儿CAG重复数目为14／31次，其中14次重复来自父亲，31次重复来自母亲的正常等位基因，符合孟德尔遗传规律。本次检测的胎儿携带患者的正常等位基因。胎儿出生后的检测结果与产前检测完全相同。结论通过脐带血和短串联重复序列分析技术检测SCA3基因CAG重复序列动态突变，可快速、可靠地进行SCA3产前诊断。Objective To investigate methods for prenatal diagnosis of spinocerebellar ataxia type 3 （SCA3）. Methods Cordocentesis were performed in the pregnant SCA3 female proband of pedigree during the 20th gestational week. Polymerase chain reaction （PCR） and short tandem repeat （STR） analysis based on CEQ8000 sequencer were applied to analyze the CAG repeat of SCA3 gene. Results The proband had 31/75 CAG repeat alleles of SCA3 gene; her spouse had 14/27 CAG repeat alleles; the fetuse had 14/31 CAG repeat alleles （14 repeat from the father, and 31 repeat from the mother）, which is in conformity with Medelian inheritance. The fetuse inherited the normal CAG repeat allele from the mother. The above results of the fetuse were verified after its birth. Conclusion Detecting CAG repeat dynamic mutation of SCA3 gene based on umbilical cord blood and STR analysis could be a rapid and reliable method for prenatal diagnosis of SCA3.

关 键 词：脊髓小脑共济失调 产前诊断 胎血 串联重复序列 

分 类 号：R686[医药卫生—骨科学]