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CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas  Silvia Majore, Caterina Catricalà, Francesco.

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Presentation on theme: "CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas  Silvia Majore, Caterina Catricalà, Francesco."— Presentation transcript:

1 CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas  Silvia Majore, Caterina Catricalà, Francesco Binni, Paola De Simone, Laura Eibenschutz, Paola Grammatico  Journal of Investigative Dermatology  Volume 122, Issue 2, Pages (February 2004) DOI: /j X x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Patient's family pedigree. The patient (proband) is individual III:2. His cousin (III:5) died at age 28 from lung metastasis of unknown origin. Genotypes are shown below various individuals, with CDKN2A genotype above and MC1R below. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Chromatogram showing the IVS2-105A/G CDKN2A variant. The heterozygous A/G peak is easily detected. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions


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