Linkage disequilibrium analysis in the genetically isolated Norfolk Island population

C. Bellis, H. C. Cox, M. Ovcaric, K. N. Begley, R. A. Lea, S. Quinlan, D. Burgner, S. C. Heath, J. Blangero, L. R. Griffiths

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

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 ∼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.

Original languageEnglish (US)
Pages (from-to)366-373
Number of pages8
JournalHeredity
Volume100
Issue number4
DOIs
StatePublished - Apr 2008
Externally publishedYes

Fingerprint

Melanesia
Pacific Ocean Islands
Linkage Disequilibrium
linkage disequilibrium
Population
single nucleotide polymorphism
Genes
Single Nucleotide Polymorphism
genes
Founder Effect
population characteristics
Medical Genetics
founder effect
Nitric Oxide Synthase Type II
Population Characteristics
Pedigree
pedigree
Microsatellite Repeats
cardiovascular diseases
Cardiovascular Diseases

Keywords

  • Genetic isolate
  • Linkage disequilibrium
  • Norfolk Island
  • NOS2A
  • Xq13.3

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Genetics
  • Genetics(clinical)

Cite this

Bellis, C., Cox, H. C., Ovcaric, M., Begley, K. N., Lea, R. A., Quinlan, S., ... Griffiths, L. R. (2008). Linkage disequilibrium analysis in the genetically isolated Norfolk Island population. Heredity, 100(4), 366-373. https://doi.org/10.1038/sj.hdy.6801083

Linkage disequilibrium analysis in the genetically isolated Norfolk Island population. / Bellis, C.; Cox, H. C.; Ovcaric, M.; Begley, K. N.; Lea, R. A.; Quinlan, S.; Burgner, D.; Heath, S. C.; Blangero, J.; Griffiths, L. R.

In: Heredity, Vol. 100, No. 4, 04.2008, p. 366-373.

Research output: Contribution to journalArticle

Bellis, C, Cox, HC, Ovcaric, M, Begley, KN, Lea, RA, Quinlan, S, Burgner, D, Heath, SC, Blangero, J & Griffiths, LR 2008, 'Linkage disequilibrium analysis in the genetically isolated Norfolk Island population', Heredity, vol. 100, no. 4, pp. 366-373. https://doi.org/10.1038/sj.hdy.6801083
Bellis C, Cox HC, Ovcaric M, Begley KN, Lea RA, Quinlan S et al. Linkage disequilibrium analysis in the genetically isolated Norfolk Island population. Heredity. 2008 Apr;100(4):366-373. https://doi.org/10.1038/sj.hdy.6801083
Bellis, C. ; Cox, H. C. ; Ovcaric, M. ; Begley, K. N. ; Lea, R. A. ; Quinlan, S. ; Burgner, D. ; Heath, S. C. ; Blangero, J. ; Griffiths, L. R. / Linkage disequilibrium analysis in the genetically isolated Norfolk Island population. In: Heredity. 2008 ; Vol. 100, No. 4. pp. 366-373.
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