Document Detail


Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus.
MedLine Citation:
PMID:  1673310     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on linkage data between DXS105, DXS98, the locus for the fragile X syndrome (FRAXA), and 3 other polymorphic loci that flank the FRAXA locus. An analysis was undertaken to determine the relative positions of DXS105 and DXS98 and to test the assignment of DXS105 to a location proximal and closely linked to FRAXA. In this study of fragile X fra(X) syndrome families, the DXS105 locus was calculated to be proximal to FRAXA with a maximum lod score of 10.36 at theta = 0.08. DXS105 was also shown to be closely linked to the gene for factor IX (F9)(Z = 11.84 at theta = 0.08) and to DXS98 (Z = 4.91 at theta = 0.04). The order of the loci proximal to FRAXA is most likely centromere-factor IX-DXS105-DXS98-FRAXA-telomere. The use of DXS105 and DXS98 in clinical investigations should significantly increase the accuracy of risk assessment in informative fragile X families.
Authors:
N J Carpenter; S N Thibodeau; W T Brown
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  38     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:    1991 Feb-Mar
Date Detail:
Created Date:  1991-05-21     Completed Date:  1991-05-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  349-53     Citation Subset:  IM    
Affiliation:
Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, Oklahoma 74135.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
DNA Probes / diagnostic use*
Fragile X Syndrome / genetics*
Genetic Markers
Humans
Lod Score
Pedigree
Polymorphism, Restriction Fragment Length*
Risk
X Chromosome
Chemical
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers

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


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