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A study of a single variant allele (rs1426654) of the pigmentation‐related gene SLC24A5 in Greek subjects
Author(s) -
Dimisianos Gerasimos,
Stefanaki Irene,
Nicolaou Vicky,
Sypsa Vana,
Antoniou Christina,
Poulou Myrto,
Papadopoulos Othon,
Gogas Helen,
Kanavakis Emmanouel,
Nicolaidou Electra,
Katsambas Andreas D.,
Stratigos Alexander J.
Publication year - 2009
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.2008.00758.x
Subject(s) - allele , genetics , genotype , heterozygote advantage , biology , allele frequency , gene , polymorphism (computer science)
The SLC24A5 gene, the human orthologue of the zebrafish golden gene, has been shown to play a key role in human pigmentation. In this study, we investigate the prevalence of the variant allele rs1426654 in a selected sample of Greek subjects. Allele‐specific polymerase chain reaction was performed in peripheral blood samples from 158 attendants of a dermatology outpatient service. The results were correlated with pigmentary traits and MC1R genotype. The vast majority of subjects (99%) were homozygous for the Thr 111 allele. Only two subjects from the control group (1.26%) were heterozygous for the alanine and threonine allele. Both of these Thr 111 /Ala 111 heterozygotes carried a single polymorphism of MC1R (one with the V92M variant and another with the V60L variant). Following reports of the rs1426654 polymorphism reaching fixation in the European population, our study of Greek subjects showed a prevalence of the Thr 111 allele, even among subjects with darker skin pigmentation or phototype.