Faculty of Biology, University of Latvia
Hard copy: ISSN 1691–8088
On-line: ISSN 2255–9582
Acta Univ Latv (2006) 710: 7–16
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Environmental and

Acta Univ Latv (2006) 710: 7–16

Orginal Article

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

Dace Pjanova1*, Olita Heisele1, Ludmila Engele2, Juliette A. Randerson-Moor3, Kairen Kukalizch3, D. Timothy Bishop3, Julia A. Newton Bishop3
1Biomedical Research and Study Centre, University of Latvia, Rātsupītes 1, Rīga LV-1067, Latvia
2Latvian Oncological Center, Hipokrāta 4, Rīga LV-1079, Latvia
3Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St. James’s University Hospital, Leeds, UK
*Corresponding author, E-mail: dace@biomed.lu.lv


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.

Key words: 9p21, CDKN2A, gene dosage, germline mutations, melanoma families.

Acta Univ Latv (2006) 710: 7–16
 DOI: http://doi.org/10.22364/eeb

Prof. Gederts Ievinsh
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University of Latvia

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