利用聚合酶链反应介导的定点诱变技术直接检测CD40L基因中的Q220X突变对X连锁高IgM综合征进行产前诊断。
Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis.
作者信息
Jayoussi-Assalia R, Etzioni A, Notarangelo L D, Brill-Zamir R, Kasinetz L, Kadouri E, Gershoni-Baruch R
机构信息
Institute of Human Genetics, Rambam Medical Center, Technion, Haifa, Israel.
出版信息
Prenat Diagn. 2000 Oct;20(10):822-3. doi: 10.1002/1097-0223(200010)20:10<822::aid-pd935>3.0.co;2-k.
Abstract
We present the first report of prenatal diagnosis of X-linked hyper-IgM syndrome by PCR-mediated site directed mutagenesis (PSM) in a woman known to carry the Q220X mutation in the CD40L gene. Using the simple PSM assay, the Q220X mutation was identified by chorionic villous sampling (CVS) at 11 weeks' gestation and the pregnancy was terminated.
摘要
我们报告了首例通过聚合酶链反应介导的定点诱变（PSM）对X连锁高IgM综合征进行产前诊断的病例，该孕妇已知携带CD40L基因的Q220X突变。使用简单的PSM检测方法，在妊娠11周时通过绒毛取样（CVS）鉴定出Q220X突变，并终止了妊娠。
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