Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds.

摘要: CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with family history of this disease. Mutation analysis 17 familial Australian revealed paucity exon mutations and none the previously described disease-related mutations. One novel germline mutation was found one, Arg24Pro, which segregates 1/17 kindreds. Two polymorphisms, Ala148Thr base change at nucleotide 540 were detected one polymorphism untranslated region 3 (nucleotide 580) also found. Together other recent reports, these findings provide support for locus but suggest that loci are involved hereditary