A bioluminescent assay for detecting melanocortin-1 receptor (MC1R) gene polymorphisms R160W, R151C, and D294H

Several polymorphisms in the melanocortin-1 receptor gene ( MC1R ) have been associated with melanoma risk. In particular, rs1805007, rs1805008, and rs1805009 mutations, which result in R151C, R160W, and D294H amino acid substitutions, respectively, and are associated with the phenotype of red-hair...

Full description

Saved in:
Bibliographic Details
Published inMolecular biology (New York) Vol. 49; no. 6; pp. 852 - 857
Main Authors Bashmakova, E. E., Krasitskaya, V. V., Bondar, A. A., Kozlova, A. V., Ruksha, T. G., Frank, L. A.
Format Journal Article
LanguageEnglish
Published Moscow Pleiades Publishing 01.11.2015
Springer Nature B.V
Subjects
Bioassays
Biochemistry
Bioluminescence
Biomedical and Life Sciences
Genomics. Transcriptomics
Human Genetics
Life Sciences
Melanoma
Polymorphism
bioluminescent assay
melanoma
single nucleotide polymorphisms
MC1R receptor
Online AccessGet full text

Cover

More Information
Summary:Several polymorphisms in the melanocortin-1 receptor gene ( MC1R ) have been associated with melanoma risk. In particular, rs1805007, rs1805008, and rs1805009 mutations, which result in R151C, R160W, and D294H amino acid substitutions, respectively, and are associated with the phenotype of red-hair mutations, have also been connected with melanoma and nonmelanoma skin cancer risks. This work describes a method of detecting these polymorphisms using primer extension with subsequent dual bioluminescent assay. Model plasmids carrying polymorphic MC1R fragments, as well as several clinical DNA samples, were tested using the proposed technique. The results agreed well with those obtained by Sanger sequencing.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0026-8933
1608-3245
DOI:10.1134/S0026893315050039