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Title: Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

Abstract

Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. Chondrocytes from affected individuals accumulate an unusual appearing material in the rough endoplasmic reticulum, which has led to the hypothesis that a structural abnormality in a cartilage-specific protein produces the phenotype. The authors recently identified a large family with a mild form of pseudoachondroplasia. By genetic linkage to a dinucleotide repeat polymorphic marker (D19S199), they have localized the disease gene to chromosome 19 (maximum lod score of 7.09 at a recombination fraction of 0.03). Analysis of additional markers and recombinations between the linked markers and the phenotype suggests that the disease gene resides within a 6.3-cM interval in the immediate pericentromeric region of the chromosome. 39 refs., 2 figs., 1 tab.

Authors:
; ; ; ;  [1];  [2]; ;  [3]
  1. Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States)
  2. Marshfield Medical Research Foundation, WI (United States)
  3. Univ. of Hawaii, Honolulu, HI (United States)
Publication Date:
OSTI Identifier:
7160499
Resource Type:
Journal Article
Journal Name:
Genomics; (United States)
Additional Journal Information:
Journal Volume: 18:3; Journal ID: ISSN 0888-7543
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HUMAN CHROMOSOME 19; GENETIC MAPPING; SKELETAL DISEASES; PATHOGENESIS; CHROMOSOMES; DISEASES; HUMAN CHROMOSOMES; MAPPING; 550400* - Genetics

Citation Formats

Briggs, M D, Rasmussen, M, Garber, P, Rimoin, D L, Cohn, D H, Weber, J L, Yuen, J, and Reinker, K. Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. United States: N. p., 1993. Web. doi:10.1016/S0888-7543(05)80369-6.
Briggs, M D, Rasmussen, M, Garber, P, Rimoin, D L, Cohn, D H, Weber, J L, Yuen, J, & Reinker, K. Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. United States. https://doi.org/10.1016/S0888-7543(05)80369-6
Briggs, M D, Rasmussen, M, Garber, P, Rimoin, D L, Cohn, D H, Weber, J L, Yuen, J, and Reinker, K. 1993. "Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19". United States. https://doi.org/10.1016/S0888-7543(05)80369-6.
@article{osti_7160499,
title = {Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19},
author = {Briggs, M D and Rasmussen, M and Garber, P and Rimoin, D L and Cohn, D H and Weber, J L and Yuen, J and Reinker, K},
abstractNote = {Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. Chondrocytes from affected individuals accumulate an unusual appearing material in the rough endoplasmic reticulum, which has led to the hypothesis that a structural abnormality in a cartilage-specific protein produces the phenotype. The authors recently identified a large family with a mild form of pseudoachondroplasia. By genetic linkage to a dinucleotide repeat polymorphic marker (D19S199), they have localized the disease gene to chromosome 19 (maximum lod score of 7.09 at a recombination fraction of 0.03). Analysis of additional markers and recombinations between the linked markers and the phenotype suggests that the disease gene resides within a 6.3-cM interval in the immediate pericentromeric region of the chromosome. 39 refs., 2 figs., 1 tab.},
doi = {10.1016/S0888-7543(05)80369-6},
url = {https://www.osti.gov/biblio/7160499}, journal = {Genomics; (United States)},
issn = {0888-7543},
number = ,
volume = 18:3,
place = {United States},
year = {Wed Dec 01 00:00:00 EST 1993},
month = {Wed Dec 01 00:00:00 EST 1993}
}