胎儿血液中脆性X智力低下蛋白1（FMR1）的快速分析：产前诊断的一项改进措施

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.

作者信息

Lambiris N, Peters H, Bollmann R, Leschik G, Leisti J, Salonen R, Cobet G, Oostra B A, Willemsen R

机构信息

Institute of Medical Genetics, Medical School Charité, Humboldt-University, Berlin, Germany.

出版信息

Hum Genet. 1999 Sep;105(3):258-60. doi: 10.1007/s004390051098.

DOI:10.1007/s004390051098

PMID:10987654

Abstract

Fragile-X syndrome, a frequent cause of inherited mental retardation, is characterised in almost all cases by a CGG-repeat expansion that is located within the FMR-1 gene and that prevents the expression of fragile-X mental retardation protein (FMRP). We describe a test that simultaneously allows the rapid detection of FMRP in fetal lymphocytes and distinguishes these from fetal erythrocytes. Routine molecular genetic methods fail in the rare cases where protein expression is blocked, although there is no repeat expansion. Furthermore, they are unsuitable in cases of advanced pregnancy. Our test proves extremely valuable under both these circumstances.

摘要

脆性X综合征是遗传性智力迟钝的常见病因，几乎在所有病例中，其特征都是位于FMR-1基因内的CGG重复序列扩增，这会阻止脆性X智力迟钝蛋白（FMRP）的表达。我们描述了一种检测方法，它能同时快速检测胎儿淋巴细胞中的FMRP，并将其与胎儿红细胞区分开来。在极少数蛋白质表达受阻但无重复序列扩增的情况下，常规分子遗传学方法无法检测。此外，在怀孕后期的情况下，这些方法也不适用。我们的检测方法在这两种情况下都被证明极具价值。