Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: A new appraisal

被引：17

作者：

Willemsen, R ^{[1
]}

Los, F ^{[1
]}

Mohkamsing, S ^{[1
]}

vandenOuweland, A ^{[1
]}

Deelen, W ^{[1
]}

Galjaard, H ^{[1
]}

Oostra, B ^{[1
]}

机构：

[1] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,MGC,NL-3000 DR ROTTERDAM,NETHERLANDS

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 03期

关键词：

prenatal diagnosis; fragile X syndrome; amniotic fluid; FMRP;

D O I：

10.1136/jmg.34.3.250

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is described, using a rapid and simple antibody test on uncultured amniotic fluid cells. The test requires 1 ml of amniotic fluid and the results of this antibody test are available on the same day as the amniocentesis.

引用

页码：250 / 251

页数：2

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