X连锁免疫缺陷中的携带者检测。I：基于聚合酶链反应的MAOA基因座X染色体失活检测法。
Carrier detection in X-linked immunodeficiencies. I: A PCR-based X chromosome inactivation assay at the MAOA locus.
作者信息
Hendriks R W, Chen Z Y, Hinds H, Schuurman R K, Craig I W
机构信息
Department of Biochemistry, University of Oxford, UK.
出版信息
Immunodeficiency. 1993;4(1-4):209-11.
PMID:8167702
Abstract
We developed an X chromosome inactivation PCR assay, based on differential methylation of the 5' CpG island of the monoamine oxidase A gene (MAOA), close to a highly polymorphic region just downstream of the first exon. The assay provides a method to determine the carrier status of females from pedigrees with X-linked immunodeficiency diseases (XLID).
摘要
我们开发了一种X染色体失活PCR检测方法，该方法基于单胺氧化酶A基因（MAOA）5'端CpG岛的差异甲基化，该区域靠近第一个外显子下游的一个高度多态性区域。该检测方法提供了一种确定患有X连锁免疫缺陷疾病（XLID）家系中女性携带者状态的方法。
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