Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population
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 associatio...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BioMed Central
2013-06-01
|
| Series: | Genomics & Informatics |
| Subjects: | |
| Online Access: | http://genominfo.org/upload/pdf/gni-11-93.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832572198518259712 |
|---|---|
| author | Ji Eun Lim Bermseok Oh |
| author_facet | Ji Eun Lim Bermseok Oh |
| author_sort | Ji Eun Lim |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-44ae6120b29b4581abdebb03523eeed4 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2013-06-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-44ae6120b29b4581abdebb03523eeed42025-02-02T11:18:31ZengBioMed CentralGenomics & Informatics1598-866X2234-07422013-06-01112939610.5808/GI.2013.11.2.9386Allelic Frequencies of 20 Visible Phenotype Variants in the Korean PopulationJi Eun Lim0Bermseok Oh1Department of Biomedical Engineering, Kyung Hee University School of Medicine, Seoul 130-701, Korea.Department of Biomedical Engineering, Kyung Hee University School of Medicine, Seoul 130-701, Korea.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.http://genominfo.org/upload/pdf/gni-11-93.pdfeye colorgene frequencyhair colorKoreansingle nucleotide polymorphism |
| spellingShingle | Ji Eun Lim Bermseok Oh Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population Genomics & Informatics eye color gene frequency hair color Korean single nucleotide polymorphism |
| title | Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population |
| title_full | Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population |
| title_fullStr | Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population |
| title_full_unstemmed | Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population |
| title_short | Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population |
| title_sort | allelic frequencies of 20 visible phenotype variants in the korean population |
| topic | eye color gene frequency hair color Korean single nucleotide polymorphism |
| url | http://genominfo.org/upload/pdf/gni-11-93.pdf |
| work_keys_str_mv | AT jieunlim allelicfrequenciesof20visiblephenotypevariantsinthekoreanpopulation AT bermseokoh allelicfrequenciesof20visiblephenotypevariantsinthekoreanpopulation |