Linkage disequilibrium analysis in the genetically isolated Norfolk Island population

Bellis, C., Cox, H. C., Ovcaric, M., Begley, K. N., Lea, Rod A., Quinlan, S., Burgner, D., Heath, S. C., Blangero, J., & Griffiths, Lyn R. (2008) Linkage disequilibrium analysis in the genetically isolated Norfolk Island population. Heredity, 100(4), pp. 366-373.

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Norfolk Island is a human genetic isolate, possessing unique population characteristics that could be utilized for complex disease gene localization. Our intention was to evaluate the extent and strength of linkage disequilibrium (LD) in the Norfolk isolate by investigating markers within Xq13.3 and the NOS2A gene encoding the inducible nitric oxide synthase. A total of six microsatellite markers spanning approximately 11 Mb were assessed on chromosome Xq13.3 in a group of 56 men from Norfolk Island. Additionally, three single nucleotide polymorphisms (SNPs) localizing to the NOS2A gene were analyzed in a subset of the complex Norfolk pedigree. With the exception of two of the marker pairs, one of which is the most distantly spaced marker, all the Xq13.3 marker pairs were found to be in significant LD indicating that LD extends up to 9.5-11.5 Mb in the Norfolk Island population. Also, all SNPs studied showed significant LD in both Norfolk Islanders and Australian Caucasians, with two of the marker pairs in complete LD in the Norfolk population only. The Norfolk Island study population possesses a unique set of characteristics including founder effect, geographical isolation, exhaustive genealogical information and phenotypic data of use to cardiovascular disease risk traits. With LD extending up to 9.5-11 Mb, the Norfolk isolate should be a powerful resource for the localization of complex disease genes.

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19 citations in Scopus
18 citations in Web of Science®
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ID Code: 62680
Item Type: Journal Article
Refereed: Yes
DOI: 10.1038/sj.hdy.6801083
ISSN: 1365-2540
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2007 Nature Publishing Group
Deposited On: 19 Sep 2013 05:20
Last Modified: 27 Jan 2015 03:00

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