Acta Univ Latv (2006) 710: 7–16

Analysis of Latvian melanoma families for 9p21 germline deletions by the multiplex ligation-dependent probe amplification approach

Abstract

CDKN2A at chromosome band 9p21 is the most important melanoma susceptibility gene identified to date. Germline mutations of CDKN2A have been detected in melanoma families worldwide but the overall proportion of families with identified mutations remains moderate. Here we applied a novel method, called multiplex ligation-dependent probe amplification (MLPA), for detection of germline deletions at 9p21 in four melanoma-prone families from Latvia with no previously detected CDKN2A point mutations. No germline deletions were identified, excluding 9p21 deletions 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.