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A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.
- Source :
-
Melanoma research [Melanoma Res] 2003 Dec; Vol. 13 (6), pp. 567-70. - Publication Year :
- 2003
-
Abstract
- About 10% of melanoma cases have clinical factors indicative of hereditary cancer. CDKN2A is a major melanoma susceptibility gene in familial malignant melanoma. In this study a novel L94Q missense mutation of the CDKN2A gene is described in a melanoma kindred with two affected second-degree family members. To detect the mutation, polymerase chain reaction (PCR) amplification methods and direct sequencing were used. The presence of the mutation was confirmed by restriction fragment length polymorphism analysis after digestion of the PCR amplicons with the restriction endonuclease BspMI. The penetrance of the novel mutation was shown to be incomplete. Functional importance of the mutation was assumed from the protein p16 structure.
- Subjects :
- Cyclin-Dependent Kinase Inhibitor p16 metabolism
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific pharmacology
Family Health
Genes, p16
Genetic Predisposition to Disease
Heterozygote
Humans
Oligonucleotides genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Slovenia
Temperature
Melanoma genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 0960-8931
- Volume :
- 13
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Melanoma research
- Publication Type :
- Academic Journal
- Accession number :
- 14646619
- Full Text :
- https://doi.org/10.1097/01.cmr.0000056289.15046.c0