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Title: Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19

Abstract

Multiple epiphyseal dysplasia (MED) is an inherited chondrodystrophy that results in deformity of articular surfaces and in subsequent degenerative joint disease. The disease is inherited as an autosomal dominant trait with high penetrance. An MED mutation has been mapped by genetic linkage analysis of DNA polymorphisms in a single large pedigree. Close linkage of MED to 130 tested chromosomal markers was ruled out by discordant inheritance patterns. However, strong evidence for linkage of MED to markers in the pericentromeric region of chromosome 19 was obtained. The most closely linked marker was D19S215, with a maximum LOD score of 6.37 at [theta] = .05. Multipoint linkage analysis indicated that MED is located between D19S212 and D19S215, a map interval of 1.7 cM. Discovery of the map location of MED in this family will facilitate identification of the mutant gene. The closely linked DNA polymorphisms will also provide the means to determine whether other inherited chondrodystrophies have underlying defects in the same gene. 29 refs., 3 figs., 1 tab.

Authors:
; ; ; ; ;  [1]
  1. Thomas Jefferson Univ., Philadelphia, PA (United States)
Publication Date:
OSTI Identifier:
5031675
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 54:1; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; BONE JOINTS; DISEASES; CARTILAGE; HUMAN CHROMOSOME 19; GENETIC MAPPING; SKELETAL DISEASES; RFLPS; ANIMAL TISSUES; BODY; CHROMOSOMES; CONNECTIVE TISSUE; HUMAN CHROMOSOMES; MAPPING; ORGANS; SKELETON; TISSUES; 550400* - Genetics

Citation Formats

Oehlmann, R, Summerville, G P, Yeh, G, Weaver, E J, Jimenez, S A, and Knowlton, R G. Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. United States: N. p., 1994. Web.
Oehlmann, R, Summerville, G P, Yeh, G, Weaver, E J, Jimenez, S A, & Knowlton, R G. Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. United States.
Oehlmann, R, Summerville, G P, Yeh, G, Weaver, E J, Jimenez, S A, and Knowlton, R G. 1994. "Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19". United States.
@article{osti_5031675,
title = {Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19},
author = {Oehlmann, R and Summerville, G P and Yeh, G and Weaver, E J and Jimenez, S A and Knowlton, R G},
abstractNote = {Multiple epiphyseal dysplasia (MED) is an inherited chondrodystrophy that results in deformity of articular surfaces and in subsequent degenerative joint disease. The disease is inherited as an autosomal dominant trait with high penetrance. An MED mutation has been mapped by genetic linkage analysis of DNA polymorphisms in a single large pedigree. Close linkage of MED to 130 tested chromosomal markers was ruled out by discordant inheritance patterns. However, strong evidence for linkage of MED to markers in the pericentromeric region of chromosome 19 was obtained. The most closely linked marker was D19S215, with a maximum LOD score of 6.37 at [theta] = .05. Multipoint linkage analysis indicated that MED is located between D19S212 and D19S215, a map interval of 1.7 cM. Discovery of the map location of MED in this family will facilitate identification of the mutant gene. The closely linked DNA polymorphisms will also provide the means to determine whether other inherited chondrodystrophies have underlying defects in the same gene. 29 refs., 3 figs., 1 tab.},
doi = {},
url = {https://www.osti.gov/biblio/5031675}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 54:1,
place = {United States},
year = {Sat Jan 01 00:00:00 EST 1994},
month = {Sat Jan 01 00:00:00 EST 1994}
}