Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from the COL7A1 locus
Abstract
Larsen syndrome (LS) is a skeletal dysplasia (osteochondrodysplasia) in which multiple dislocations of the large joints are the major feature. Nosology in this group of diseases, which constitutes 8% of Mendelian disorders in man, is primarily based on clinical and radiographic features. Hopes for more accurate classification grounds are currently being met by progress in elucidation of underlying genetic defects. We have performed linkage analysis in a large Swedish kindred with autosomal dominant LS and found the gene (LAR1) to be strongly linked to chromosome 3p markers (Z{sub max} = 13.4 at {theta} = .00). Recombination analysis indicates that the LAR1 locus is located in a region defined distally by D3S1581 and proximally by D3S1600, which cytogenetically maps to chromosome region 3p21.1-14.1. Linkage and recombination analysis of a COL7A1 PvuII intragenic polymorphism versus LS and chromosome 3 markers indicate that COL7A1 is located close to, but distinct from, the LAR1 locus. 33 refs., 6 figs., 3 tabs.
- Authors:
-
- East Hospital, Gothenburg (Sweden); and others
- Publication Date:
- OSTI Identifier:
- 209903
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Human Genetics
- Additional Journal Information:
- Journal Volume: 57; Journal Issue: 5; Other Information: PBD: Nov 1995
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 3; GENETIC MAPPING; PATIENTS; HEREDITARY DISEASES; SKELETAL DISEASES; GENES; GENE RECOMBINATION; SWEDEN; BIOLOGICAL MARKERS; GENETICS; DOMINANT MUTATIONS; STATISTICS
Citation Formats
Vujic, M, Hallstensson, K, and Wahlstroem, J. Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from the COL7A1 locus. United States: N. p., 1995.
Web.
Vujic, M, Hallstensson, K, & Wahlstroem, J. Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from the COL7A1 locus. United States.
Vujic, M, Hallstensson, K, and Wahlstroem, J. 1995.
"Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from the COL7A1 locus". United States.
@article{osti_209903,
title = {Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from the COL7A1 locus},
author = {Vujic, M and Hallstensson, K and Wahlstroem, J},
abstractNote = {Larsen syndrome (LS) is a skeletal dysplasia (osteochondrodysplasia) in which multiple dislocations of the large joints are the major feature. Nosology in this group of diseases, which constitutes 8% of Mendelian disorders in man, is primarily based on clinical and radiographic features. Hopes for more accurate classification grounds are currently being met by progress in elucidation of underlying genetic defects. We have performed linkage analysis in a large Swedish kindred with autosomal dominant LS and found the gene (LAR1) to be strongly linked to chromosome 3p markers (Z{sub max} = 13.4 at {theta} = .00). Recombination analysis indicates that the LAR1 locus is located in a region defined distally by D3S1581 and proximally by D3S1600, which cytogenetically maps to chromosome region 3p21.1-14.1. Linkage and recombination analysis of a COL7A1 PvuII intragenic polymorphism versus LS and chromosome 3 markers indicate that COL7A1 is located close to, but distinct from, the LAR1 locus. 33 refs., 6 figs., 3 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/209903},
journal = {American Journal of Human Genetics},
number = 5,
volume = 57,
place = {United States},
year = {Wed Nov 01 00:00:00 EST 1995},
month = {Wed Nov 01 00:00:00 EST 1995}
}