An anomalous haplotype distribution of the arrestin domain-containing 4 gene (ARRDC4) haplotypes in Caucasians
| Autor: | Andreas Johne, Karla Köpke, Ivar Roots, Mark Goldammer, Jana Flügge, Bettina M. Knoll, Agnieszka Wojewoda, Przemyslaw M. Mrozikiewicz |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Candidate gene Single-nucleotide polymorphism Biology Polymerase Chain Reaction Polymorphism Single Nucleotide Linkage Disequilibrium White People Russia Evolution Molecular Modal haplotype Exon Gene Frequency Humans Clade Gene Genetics (clinical) Genetic association DNA Primers Genetics Base Sequence Haplotype Genetic Variation Haplotypes Female Carrier Proteins Polymorphism Restriction Fragment Length |
| Zdroj: | Genetic testing. 12(1) |
| ISSN: | 1090-6576 |
| Popis: | Little was known about the sequence variability of the human Arrestin domain-containing 4 gene (ARRDC4). We sequenced its DNA from exon 2 to exon 8 in a sample of 92 Russians. Seven variants were identified; one of them has not been described yet. It causes an amino acid change from Thr to Met. Identified variants were genotyped in the complete sample of 253 unrelated men and women to analyze haplotype distribution. Fifteen haplotypes were inferred. Nine haplotypes had estimated frequencies1%. Ninety-five percent of all haplotypes were determined by five haplotype-tagging single nucleotide polymorphisms. Haplotypes form two clades. The two most common haplotypes cover 76% of all haplotypes. The certainty of the haplotype reconstruction does not depend on the haplotype-inferring algorithms, but is a result of the anomalous haplotype distribution of ARRDC4, which makes this gene a suitable candidate gene for haplotype association studies. Interestingly, there is a great evolutionary distance between the two most common haplotypes, which could suggest a more complicated coalescent process with either past gene flow, selections, or bottlenecks. |
| Databáze: | OpenAIRE |
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