RAPID MOLECULAR METHOD FOR PRENATAL DETECTION OF DOWNS-SYNDROME

被引：110
|
作者：
PERTL, B
YAU, SC
SHERLOCK, J
DAVIES, AF
MATHEW, CG
ADINOLFI, M
机构：
[1] UNITED MED & DENT SCH GUYS & ST THOMAS HOSP,DIV MED & MOLEC GENET,LONDON SE1 9RT,ENGLAND
[2] GRAZ UNIV,DEPT OBSTET & GYNECOL,GRAZ,AUSTRIA
来源：
LANCET | 1994年 / 343卷 / 8907期
关键词：
D O I：
10.1016/S0140-6736(94)92404-X
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We have evaluated a rapid method that allows prenatal detection of Down's syndrome in less than 24 hours. DNA from uncultured amniotic fluid, fetal blood, and tissue samples was amplified with the small tandem repeat (STR) marker D21S11. Quantitative analysis of fluorescent STR products with evaluation of their sizes provided clear evidence for trisomy 21. Whilst most normal samples showed two amplification peaks of equal size, Down's syndrome samples were characterised by either th ree STR peaks or two peaks with a ratio of 2:1. Co-amplification with a non-polymorphic sequence allowed analysis of Samples that were homozygous for the 21-derived STRs.
引用
收藏
页码：1197 / 1198
页数：2
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