Genomics Inform.  2013 Jun;11(2):93-96. 10.5808/GI.2013.11.2.93.

Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population

• Lim JE
• Oh B

• KMID: 1494262
• DOI: http://doi.org/10.5808/GI.2013.11.2.93

Abstract

The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide association analysis have identified genes and variations that correlate with human visible phenotypes and developed phenotype prediction programs. However, most prediction models were constructed and validated based on genotype and phenotype information on Europeans. Therefore, we need to validate prediction models in diverse ethnic populations. In this study, we selected potentially useful variations for forensic science that are associated with hair and eye color, iris pattern, and facial morphology, based on previous studies, and analyzed their frequencies in 1,920 Koreans. Among 20 single nucleotide polymorphisms (SNPs), 10 SNPs were polymorphic, 6 SNPs were very rare (minor allele frequency < 0.005), and 4 SNPs were monomorphic in the Korean population. Even though the usability of these SNPs should be verified by an association study in Koreans, this study provides 10 potential SNP markers for forensic science for externally visible characteristics in the Korean population.

Keyword

eye color; gene frequency; hair color; Korean; single nucleotide polymorphism

MeSH Terms

DNA
Eye Color
Forensic Genetics
Forensic Sciences
Gene Frequency
Genotype
Hair
Hair Color
Humans
Iris
Phenotype
Polymorphism, Single Nucleotide
Skin
DNA