Validation of a Multiplex Methylation-sensitive PCR Assay for the Diagnosis of Prader-Willi and Angelman’s Syndromes

被引：0
作者：
A. Buller
A. Pandya
C. Jackson-Cook
J. Bodurtha
M. Tekin
D. S. Wilkinson
C. T. Garrett
Andrea Ferreira-Gonzalez
机构：
[1] Medical College of Virginia Campus of Virginia Commonwealth University,Department of Pathology
[2] Medical College of Virginia Campus of Virginia Commonwealth University,Department Human Genetics
[3] MCV/VCU,Molecular Diagnostics, Pathology Department
来源：
Molecular Diagnosis | 2000年 / 5卷 / 3期
关键词：
sodium-bisulfite modification; multiplex PCR; methylation analysis; Prader-Willi syndrome; Angelman’s syndrome;
D O I：
10.1007/BF03262082
中图分类号：
学科分类号：
摘要：
Background: Prader-Willi (PWS) and Angelman’s (AS) syndromes are two distinct clinical entities caused by alterations in an identical but differentially methylated region of DNA on chromosome 15q. Highly complex laboratory tests are required for diagnosis because the disorders are caused by several genetic mechanisms. Methylation-specific PCR (MSPCR) is a relatively simple alternative method to detect the methylation status of the PWS/AS region.
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页码：239 / 243
页数：4
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