Document Detail


Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).
MedLine Citation:
PMID:  8370578     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Autosomal recessive spinal muscular atrophy (SMA) has been mapped to a 6-cM interval on chromosome 5q12-13.3, flanked proximally by locus D5S6 and distally by locus D5S112. In this study we describe the isolation of two new microsatellite markers (EF1/2a and EF13/14) near locus D5S125, which lies 2 cM distal to D5S6. We show by linkage analysis and the study of the recombinants in 55 SMA pedigrees that the disease lies in the 4-cM interval between EF1/2a and D5S112. Fluorescence in situ analysis of cosmids from D5S6, EF1/2 and D5S112 confirms the genetic order and relative distance of markers. The microsatellites EF1/2a and EF13/14 are the first highly polymorphic PCR-based proximal markers in SMA to be described, and will be of value in prenatal prediction of the disorder.
Authors:
K E Morrison; R J Daniels; G K Suthers; G A Flynn; M J Francis; P K Grewal; C Dennis; V Buckle; J Ignatius; V Dubowitz
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  92     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1993-10-12     Completed Date:  1993-10-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  133-8     Citation Subset:  IM    
Affiliation:
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA, Satellite / genetics*
Female
Fetal Diseases / diagnosis,  genetics
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Linkage (Genetics)
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Predictive Value of Tests
Pregnancy
Prenatal Diagnosis / methods*
Recombination, Genetic
Spinal Muscular Atrophies of Childhood / diagnosis*,  genetics*
Chemical
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers

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


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