Bibliographic Citation
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Title | A gene for distal arthrogryposis Type I maps to the pericentromeric region of chromosome 9 |
Creator/Author | Bamshad, M. ; Watkins, W.S. ; Zenger, R.K. ; Bohnsack, J.F. ; Carey, J.C. ; Otterud, B. ; Krakowiak, P.A. ; Robertson, M. ; Jorde, L.B. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)] |
Publication Date | 1994 Dec 01 |
OSTI Identifier | OSTI ID: 56725 |
Other Number(s) | AJHGAG; ISSN 0002-9297 |
Resource Type | Journal Article |
Resource Relation | American Journal of Human Genetics ; VOL. 55 ; ISSUE: 6 ; PBD: Dec 1994 |
Subject | 55 BIOLOGY AND MEDICINE, BASIC STUDIES ; HUMAN POPULATIONS; HEREDITARY DISEASES; DOMINANT MUTATIONS; CONGENITAL MALFORMATIONS; HUMAN CHROMOSOME 9; GENETIC MAPPING; STATISTICAL MODELS; GENES |
Description/Abstract | Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at{theta}= 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified. Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped. |
Country of Publication | United States |
Language | English |
Format | pp. 1153-1158 ; PL: |
System Entry Date | 2001 May 03 |
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