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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 Date1994 Dec 01
OSTI IdentifierOSTI ID: 56725
Other Number(s)AJHGAG; ISSN 0002-9297
Resource TypeJournal Article
Resource RelationAmerican Journal of Human Genetics ; VOL. 55 ; ISSUE: 6 ; PBD: Dec 1994
Subject55 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 PublicationUnited States
LanguageEnglish
Formatpp. 1153-1158 ; PL:
System Entry Date2001 May 03

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