孕妇血浆游离DNA在唐氏综合征筛查中的应用  

The application of maternal cell-free DNA to Down's Screening.

作　　者：丁显平[1] 陈伟[2] 李小波[1] 

机构地区：[1]生物资源与生态环境教育部重点实验室四川大学生命科学学院遗传医学研究所,610064 [2]第三军医大学大坪医院,重庆400010

出　　处：《中国优生与遗传杂志》2006年第3期71-72,82,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕妇血浆游离DNA定量检测在唐氏综合征筛查中的价值。方法采用实时定量荧光PCR检测孕中期孕妇,唐氏综合征高危孕妇的血浆中3-磷酸甘油醛脱氢酶基因(GAPDH)及男性特有Y性别决定区(sex determ in ingregion Y,S R Y)基因。结果孕中期、唐氏综合征高危孕妇GAPDH拷贝数均值分别为(4.28±1.36)×103copy/m l,(3.08±1.67)×104copy/m l;孕中期、唐氏综合征高危孕妇的SRY拷贝数均值分别为174.02±98.56 copy/m l、1065.01±588.72 copy/m l。孕中期和唐氏高危孕妇血浆游离DNA含量有显著性差异。结论孕妇血浆游离DNA的定量分析在唐氏综合征筛查中有重要的价值。Objective： To investigate the value of quantitative analysis of maternal plasma DNA in Down＇s screening. Methods： Cell- free DNA in maternal plasma was isolated samples from second trimester and from abnormal pregnancy, who has high-risk of carrying a Down＇s fetus, respectively, fluorescence quantitative polymerase chain reaction PCR （ FQ -PCR） was used to determine GAPDH, a house keeping gene and sex - determining region on Y chromosome （SRY） . Results： The mean concentrations of GAPDH in second trimester, abnormal pregnancy were （ 4. 28 ± 1. 36 ） × 10^3 copy/ml, （ 3.08 ± 1. 67 ） × 10^4 copy/ml, respectively. The mean concentrations of SRY in second trimester and abnormal pregnancy were 174. 02 ± 98. 56 copy/ml, 1065.01 ±588. 72 copy/ml. There was notable variation of number of maternal plasma DNA between the second trimester and the abnormal pregnancy, who has high - risk of carrying a Down＇s fetus. Conclusion. The quantitative analysis of maternal plasma DNA is of great value in the Down＇s syndrome screening.

关 键 词：孕妇外周血 游离DNA 实时定量荧光PCR 唐氏综合征筛查 

分 类 号：R714.5[医药卫生—妇产科学]