Document Detail


High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
MedLine Citation:
PMID:  1539593     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.
Authors:
K E Morrison; R J Daniels; G K Suthers; G A Flynn; M J Francis; V J Buckle; K E Davies
Related Documents :
9829273 - Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hy...
3027343 - Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: ...
17394213 - Cryptic duplication of 12q24.33 --> qter in a child with angelman syndrome-simultaneous...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  50     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1992 Mar 
Date Detail:
Created Date:  1992-04-02     Completed Date:  1992-04-02     Revised Date:  2010-09-07    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  520-7     Citation Subset:  IM    
Affiliation:
Molecular Genetics Group, John Radcliffe Hospital, Oxford, England.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping / methods*
Chromosomes, Fungal
Chromosomes, Human, Pair 5*
Cloning, Molecular
DNA / analysis
DNA, Satellite / analysis
Female
Genetic Markers
Humans
Infant
Linkage (Genetics) / genetics
Lod Score
Male
Molecular Sequence Data
Nucleic Acid Hybridization
Pedigree
Polymerase Chain Reaction
Spinal Muscular Atrophies of Childhood / genetics*
X Chromosome
Chemical
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers; 9007-49-2/DNA
Comments/Corrections

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


Previous Document:  Heterogeneity analysis of breast cancer families by using age at onset as a covariate.
Next Document:  Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel e...