Work

Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe‐Based Melting Curve Analysis

Year: 2025

Type: article

Abstract: Three nonsynonymous single nucleotide variations (SNVs), rs1042602 in TYR (p.S192Y), rs1426654 in SLC24A5 (p.A111T), and rs16891982 in SLC45A2 (p.L374F), were associated with human skin pigmentation variation and may have recently undergone positive natural selection. Furthermore, these three SNVs have been reported to correlate with the risk and prognosis of melanoma. To simultaneously determine these three SNVs, a triplex fluorescent probe-based melting curve assay (FMCA) was developed. The method was validated by analyzing genomic DNA from subjects with known genotypes. For rs16891982, triplex FMCA did not allow good separation of genotypes with the initial polymerase enzyme mix used, but by changing the enzyme mix used, the three genotypes could be clearly distinguished. Using this method, we definitively genotyped these three SNVs in 93 European, 58 Tamil, 54 Sinhalese, and 52 Bangladeshi subjects. This method allows genotyping of rs1042602, rs1426654, and rs16891982 in a relatively large number of samples to perform association studies on skin pigmentation variation or melanoma risk.

Source: Human Mutation

DOI: 10.1155/humu/3468799

Authors: Mikiko Soejima, Yoshiro Koda

Institution: Kurume University

Language: English

Topic: melanin and skin pigmentation

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,740