HLA and genomewide allele sharing in dizygotic twins

Article Abstract:

Genome scans are conducted in large samples of dizygotic (DZ) twins from Australia and The Netherlands in order to estimate allele sharing in DZ twins and also to determine whether there is evidence of transmission distortion around the HLA locus or in other chromosomal regions. The results have shown that gene-mapping studies based on affected sibling pairs that include DZ pairs will not suffer from false-positive results due to loci involved in embryo survival.

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A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

Article Abstract:

Genotyping studies are conducted to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. The studies demonstrate that variation in the OCA2 gene 5' region explains most human eye-color variation and polymorphism of gene-regulatory regions is one of the major contributors to phenotypic variation between and within human populations.

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A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color

Article Abstract:

The fine association mapping of the eye color single nucleotide polymorphisms (SNPs) in the OCA2 gene region, close to the HERC2 (hect domain and RLD2) gene is explained. The analysis reveals that the human blue-brown eye color is solely determined by a single SNP present in the evolutionary conserved region of the HERC2 gene.

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