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Title: Linkage disequilibrium mapping of the cornea plana congenita gene CNA2

Abstract

We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2; MIM No. 217300) by linkage analysis to the approximately 3-cM interval between markers D12S82 and D12S327. Here, we extended these studies by exploiting the haplotype and linkage disequilibrium information that can be derived from the genetically isolated Finnish population and its subpopulations. By testing 32 independent families with 10 polymorphic markers in the CNA2 interval, strong allelic association between CNA2 and a set of markers with a peak at marker D12S351 was detected. Based on linkage disequilibrium analysis, the critical region for CNA2 could be narrowed to only 0.04-0.3 cM from marker D12S351, thus defining a critical interval 0.08-0.60 cM in length. These results provide a basis for highly focused positional cloning of CNA2. 18 refs., 5 figs., 1 tab.

Authors:
; ;  [1]
  1. Univ. of Helsinki (Finland) [and others
Publication Date:
OSTI Identifier:
437156
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 30; Journal Issue: 3; Other Information: PBD: 10 Dec 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENETIC MAPPING; RESOLUTION; GENES; DNA-CLONING; HUMAN CHROMOSOME 12; FINLAND; PATIENTS; HEREDITARY DISEASES; SENSE ORGANS DISEASES; POPULATION DYNAMICS; STATISTICS; CORNEA; RECESSIVE MUTATIONS; BIOLOGICAL MARKERS

Citation Formats

Tahvanainen, E., Karila, E., and Kolehmainen, J. Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. United States: N. p., 1995. Web. doi:10.1006/geno.1995.1258.
Tahvanainen, E., Karila, E., & Kolehmainen, J. Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. United States. doi:10.1006/geno.1995.1258.
Tahvanainen, E., Karila, E., and Kolehmainen, J. Sun . "Linkage disequilibrium mapping of the cornea plana congenita gene CNA2". United States. doi:10.1006/geno.1995.1258.
@article{osti_437156,
title = {Linkage disequilibrium mapping of the cornea plana congenita gene CNA2},
author = {Tahvanainen, E. and Karila, E. and Kolehmainen, J.},
abstractNote = {We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2; MIM No. 217300) by linkage analysis to the approximately 3-cM interval between markers D12S82 and D12S327. Here, we extended these studies by exploiting the haplotype and linkage disequilibrium information that can be derived from the genetically isolated Finnish population and its subpopulations. By testing 32 independent families with 10 polymorphic markers in the CNA2 interval, strong allelic association between CNA2 and a set of markers with a peak at marker D12S351 was detected. Based on linkage disequilibrium analysis, the critical region for CNA2 could be narrowed to only 0.04-0.3 cM from marker D12S351, thus defining a critical interval 0.08-0.60 cM in length. These results provide a basis for highly focused positional cloning of CNA2. 18 refs., 5 figs., 1 tab.},
doi = {10.1006/geno.1995.1258},
journal = {Genomics},
number = 3,
volume = 30,
place = {United States},
year = {1995},
month = {12}
}