Document Detail


Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy.
MedLine Citation:
PMID:  6837627     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two hundred forty-four Toronto pedigrees of Duchenne muscular dystrophy patients have been partitioned into nuclear families with pointers for complex segregation analysis under a mixed model. The model takes into account the major X-linked locus and a multifactorial transmissible component for creatine kinase activity in females. The incidence in the province of Ontario is estimated to be 292 per million male births. The proportion of sporadic cases is 1/3, demonstrating equal mutation rates in males and females. A multifactorial component (H = 0.379) contributes to family resemblance for creatine kinase measurements. Examples are presented of the application of a computer program, COUNSEL, to derive genetic risks for genetic counseling with consideration of the multifactorial component.
Authors:
W R Williams; M W Thompson; N E Morton
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  14     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1983 Feb 
Date Detail:
Created Date:  1983-05-05     Completed Date:  1983-05-05     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  315-33     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Computers*
Creatine Kinase / genetics
Female
Gene Frequency
Genetic Counseling*
Humans
Linkage (Genetics)
Male
Models, Genetic*
Muscular Dystrophies / genetics*
Mutation
Ontario
Pedigree
Risk
X Chromosome
Grant Support
ID/Acronym/Agency:
GM 17173/GM/NIGMS NIH HHS; GM 24941/GM/NIGMS NIH HHS; HL 16774/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
EC 2.7.3.2/Creatine Kinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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