应用D21S11、D21S1440和PentaD短串联重复序列诊断唐氏综合征  

Diagnosis of Down＇s syndrome using short tandem repeat loci D21Sll, D21S1440 and Penta D

作　　者：史云芳[1] 李晓洲[1] 李岩[1] 张秀玲[1] 张颖[1] 岳天孚[1] 

机构地区：[1]天津医科大学总医院妇产科医学遗传室,300052

出　　处：《中华医学遗传学杂志》2012年第4期443-446,共4页Chinese Journal of Medical Genetics

基　　金：天津市教委资助课题（20050229）;天津市科技攻关课题（06YFSYSF01800）

摘　　要：目的探讨应用短串联重复序列（shorttandemrepeat，STR）诊断唐氏综合征（Down’s syndrome，DS）的可行性，为建立一种快速、准确诊断DS的技术提供依据。方法用定量荧光聚合酶链反应扩增719份样本（包括外周血389例、羊水282例和绒毛48例）21号染色体上D21S11、D2151440和PentaDSTR基因座，通过对扩增产物条带的分析达到诊断DS的目的。结果核型正常的652份样本中，635份表现为荧光强度为1：1的2条带或1条带，17例表现3条带，为假阳性。67份DS样本均得到了诊断，53份样本出现1：1：1的3条带（峰），14份样本出现2：1的2条带（峰）。D21511、D2151440和PentaDSTR基因座诊断DS的灵敏度和特异度分别为76．12％和98．62％、71．64％和98．93％、89．55％和99．85％。联合应用3个基因座诊断DS的灵敏度为100％（67／67），特异度为97．39％（635／652）。结论用定量荧光聚合酶链反应扩增STR基因座具有灵敏度高、特异度强、简便、快速等优点，在临床上有广阔的应用前景，是大规模产前筛查DS的理想工具。Objective To investigate the feasibility of genetic diagnosis of Down＇s syndrome （DS） using short tandem repeat （STR）, and to develop a rapid and accurate method for diagnosing DS. Methods Quantitative fluorescence polymerase chain reaction （QF-PCR） was used to amplify STR loci D21S11, D21S1440 and Penta D of 719 samples. Three hundred and eighty-nine samples were peripheral blood, 282 were amniotic fluid, 48 were chorionic villous samples. The products were analyzed using eleterophoresis to detect DS. Results Among 652 samples with a normal karyotype, 635 showed 2 bands with a 1 ： 1 ratio or a single band. The remaining 17 samples showed 3 bands, and were regarded as false positive results. For 67 DS samples, 53 showed 3 bands/peaks with a 1 ： 1 ： 1 ratio and 14 showed 2 bands/peaks with a 2 ： 1 ratio. The sensitivity and specificity of STR loci D21Sll, D21S1440 and Penta D were 76. 12% and 98. 62%, 71.64% and 98.93%, 89.55% and 99.85%, respectively. The overall sensitivity and specificity of 3 STRloci were 100% （67/67） and 97. 39% （635/652）, respectively. Conclusion Compared with conventional method, author＇s method is simpler, more stable and rapid, and can be used for large-scale prenatal screening of DS.

关 键 词：短串联重复序列 唐氏综合征 基因诊断 

分 类 号：R714.5[医药卫生—妇产科学]