安吉曼综合征
遗传咨询
遗传学
产前诊断
印记(心理学)
遗传连锁
遗传诊断
染色体
生物
医学
胎儿
基因
怀孕
作者
Lijun Liu,Jianling Bai,Yu-jin Qu,Yu-wei Jin,Hong Wang,Fang Song
出处
期刊:PubMed
日期:2009-10-01
卷期号:26 (5): 495-8
被引量:2
标识
DOI:10.3760/cma.j.issn.1003-9406.2009.05.003
摘要
To study the genetic diagnosis of Angelman syndrome(AS), and provide information for clinic diagnosis and counseling to AS families.Methylation specific-PCR (MS-PCR) was used for primary diagnosis of 16 clinically suspected AS cases, and linkage analysis by short tandem repeat (STR) was applied to detect the molecular genetic defect in the nuclear families.In this study, 10 AS patients were identified by MS-PCR, and 9 of them with maternal deletion in chromosome 15q11-q13, 1 with imprinting defect in chromosome 15q11-q13 were confirmed by STR linkage analysis.Most of the AS patients could be confirmed by MS-PCR. And STR linkage analysis can detect the molecular defect of AS. It is very important for disease diagnosis, genetic counseling and prenatal diagnosis to perform the related genetic diagnosis.
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