Document Detail


Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.
MedLine Citation:
PMID:  8168823     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recently been mapped to an area of 2-3 Mb in the region q12-q13.3 of chromosome 5. We have used a series of radiation hybrids (RHs) containing distinct parts of the SMA region as defined by reference markers. A cosmid library was constructed from one RH. Thirteen clones were isolated and five of these were mapped within the SMA region. Both RH mapping and fluorescence in situ hybridization analysis showed that two clones map in the region between loci D5S125 and D5S351. One of the cosmids contains expressed sequences. Polymorphic dinucleotide repeats were identified in both clones and used for segregation analysis of key recombinant SMA families. One recombination between the SMA locus and the new marker 9Ic (D5S685) indicates that 9Ic is probably the closest distal marker. The absence of recombination between the SMA locus and marker Fc (D5S684) suggests that Fc is located close to the disease gene. These new loci should refine linkage analysis in SMA family studies and may facilitate the isolation of the disease gene.
Authors:
C Brahe; I Velonà; G van der Steege; S Zappata; A Y van de Veen; J Osinga; C M Tops; R Fodde; P M Khan; C H Buys
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  93     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-06-02     Completed Date:  1994-06-02     Revised Date:  2012-02-27    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  494-501     Citation Subset:  IM    
Affiliation:
Institute of Medical Genetics, A. Gemelli School of Medicine, Catholic University, Rome, Italy.
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MeSH Terms
Descriptor/Qualifier:
Animals
Base Sequence
CHO Cells
Chromosome Mapping / methods*
Chromosomes, Human, Pair 5*
Cosmids
Cricetinae
DNA Primers / chemistry
Female
Genetic Markers*
Humans
Hybrid Cells / radiation effects
Immunoblotting
In Situ Hybridization, Fluorescence
Male
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic / genetics
Grant Support
ID/Acronym/Agency:
66//Telethon
Chemical
Reg. No./Substance:
0/DNA Primers; 0/Genetic Markers

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