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Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.

Publication ,  Journal Article
Nallasamy, S; Paluru, PC; Devoto, M; Wasserman, NF; Zhou, J; Young, TL
Published in: Mol Vis
February 15, 2007

PURPOSE: Myopia is a common, complex disorder, and severe forms have implications for blindness due to increased risk of premature cataracts, glaucoma, retinal detachment, and macular degeneration. Autosomal dominant (AD) non-syndromic high-grade myopia has been mapped to chromosomes 18p11.31, 12q21-23, 17q21-23, 7q36, 2q37.1, 7p15.3, 15q12-13, 3q26, 4q12, 8p23, 4q22-q27, 1p36, and Xq23-q25. Here, we demonstrate evidence of linkage for AD non-syndromic high-grade myopia in a large Hutterite family to a locus on chromosome 10q21.1. METHODS: After clinical evaluation, genomic DNA was genotyped from 29 members of a Hutterite family from South Dakota (7 affected). The average refractive error of affected individuals was -7.04 diopters. Microsatellite markers were used to exclude linkage to the known AD nonsyndromic high-grade myopia loci as well as to syndromic high-grade myopia loci. A genome screen was then performed using 382 markers with an average inter-marker distance of 10 cM followed by fine-point mapping in all regions of the genome that gave positive LOD scores. SimWalk2 software was used for multipoint linkage based on AD and autosomal recessive (AR) models with a penetrance of 90% and a disease allele frequency of 0.001. RESULTS: A maximum multipoint LOD score of 3.22 was achieved under an AD model at microsatellite marker D10S1643. Fine point mapping and haplotype analysis defined a critical region of 2.67 cM on chromosome 10q21.1. Haplotype analysis demonstrated two distinct haplotypes segregating with high-grade myopia, indicative of two distinct mutations occurring in the same gene. CONCLUSIONS: We have identified a presumptive myopia locus for high-grade myopia based on linkage and haplotype analysis.

Duke Scholars

Published In

Mol Vis

EISSN

1090-0535

Publication Date

February 15, 2007

Volume

13

Start / End Page

229 / 236

Location

United States

Related Subject Headings

  • South Dakota
  • Severity of Illness Index
  • Religion
  • Refraction, Ocular
  • Pedigree
  • Ophthalmology & Optometry
  • Myopia
  • Microsatellite Repeats
  • Male
  • Lod Score
 

Citation

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Nallasamy, S., Paluru, P. C., Devoto, M., Wasserman, N. F., Zhou, J., & Young, T. L. (2007). Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis, 13, 229–236.
Nallasamy, Sudha, Prasuna C. Paluru, Marcella Devoto, Nora F. Wasserman, Jie Zhou, and Terri L. Young. “Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.Mol Vis 13 (February 15, 2007): 229–36.
Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis. 2007 Feb 15;13:229–36.
Nallasamy, Sudha, et al. “Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.Mol Vis, vol. 13, Feb. 2007, pp. 229–36.
Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis. 2007 Feb 15;13:229–236.

Published In

Mol Vis

EISSN

1090-0535

Publication Date

February 15, 2007

Volume

13

Start / End Page

229 / 236

Location

United States

Related Subject Headings

  • South Dakota
  • Severity of Illness Index
  • Religion
  • Refraction, Ocular
  • Pedigree
  • Ophthalmology & Optometry
  • Myopia
  • Microsatellite Repeats
  • Male
  • Lod Score