Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population
作者： Maria Concetta Fargnoli , Sergio Chimenti , Gisela Keller , Heinz Höfler , Ketty Peris
DOI: 10.1002/HUMU.9150
关键词:
摘要: The melanocortin 1 receptor (MC1R) gene is a major determinant of human pigmentation and specific allelic variants have been associated with red hair sun sensitive skin types as well increased cancer risk in Caucasian individuals. We screened for the entire MC1R coding region 100 unrelated individuals sampled from an Italian population who has darker pigmentary traits than populations analyzed to date. Twenty were identified, eighteen located at non-synonymous sites two synonymous sites. report four novel variants: C35Y (g.104G>A), V38M (g.112G>A), L44V (g.130C>G) I120T (g.359T>C).
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