Genome-wide scan of additional Jewish families confirms linkageof a myopia susceptibility locus to chromosome 22q12

[摘要] Purpose: A genome-wide scan was previously reported for myopia inAshkenazi Jews. In order to confirm the previous linkage peaks, acollection of DNA samples from 19 new Ashkenazi Jewish families weretested for linkage in a genome wide scan.Methods: Families were ascertained from an Orthodox Ashkenazi Jewishcommunity through mailings. Myopia was defined as equal to or greaterthan -1 diopter in both meridians in both eyes. The genome wide scanused markers from a modified Cooperative Human Linkage Center version 9(402 markers). Parametric two-point linkage was calculated with FASTLINKwhile multipoint linkage was calculated with GENEHUNTER.Results: The results for the 19 families demonstrated severalregions of suggestive linkage on chromosomes 7, 1, 17, and 22. Acombined analysis of the 19 families and 44 previously reported familiesdemonstrated an increase in the LOD score to 4.73 for the chromosome 22locus.Conclusions: Multiple chromosomal regions have exhibited someevidence of linkage to a myopia susceptibility gene in this AshkenaziJewish population. The strongest evidence of linkage to such asusceptibility gene in these data is on chromosome 22.

[学科分类] 生物化学/生物物理