文章基本信息

标题：Analysis of Latvian melanoma families for 9p21 germline deletions by the multiplex ligation-dependent probe amplification approach
本地全文：下载
作者：Dace Pjanova ; Olita Heisele ; Ludmila Engele 等
期刊名称：Environmental and Experimental Biology
印刷版ISSN：1691-8088
出版年度：2006
页码：7-16
出版社：University of Latvia
摘要：CDKN2Aat chromosome band 9p21is the most important melanoma susceptibility gene identifi ed to date. Germline mutations of CDKN2Ahave been detected in melanoma families worldwide but the overall proportion of families with identifi ed mutations remains moderate. Here we applied a novel method, called multiplex ligation-dependent probe amplifi cation (MLPA), for detection of germline deletions at 9p21in four melanoma-prone families from Latvia with no previously detected CDKN2Apoint mutations. No germline deletions were identifi ed, excluding 9p21deletions as a causal event in the patients analysed. However, we describe the application of MLPA and show the advantages of the method in gene dosage analysis
关键词：9p21; CDKN2A; gene dosage; germline mutations; melanoma families