Document Detail

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).
MedLine Citation:
PMID:  7927331     Owner:  NLM     Status:  MEDLINE    
Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage to facioscapulohumeral muscular dystrophy locus (FSHD) in a series of 16 Italian families. We found that, in two families, the disease is not linked to the 4q35 markers, indicating the presence of genetic heterogeneity among Italian FSHD families. Linkage analysis in the remaining families supports the order cen-D4S171-D4S163-D4S139-D4S810-FSHD-qter, in agreement with the physical map from the literature. EcoRI digestion and hybridization with the distal marker p13E-11 (D4S810)1 detected DNA rearrangements in the affected members of both sporadic and familial cases of FSHD, with family-specific fragments ranging in size between 15 kb and 28 kb. In three sporadic FSHD cases, the appearance of a new "small" fragment not present in either parent was clearly associated with the development of FSHD disease. However, in the familial cases analyzed, we observed two recombinations between all four 4q35 markers and the disease locus in apparently normal subjects, leaving open the possibility of nonpenetrance of the FSHD mutation.
S Cacurri; G Deidda; N Piazzo; A Novelletto; I La Cesa; S Servidei; G Galluzzi; C Wijmenga; R R Frants; L Felicetti
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  94     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1994 Oct 
Date Detail:
Created Date:  1994-11-09     Completed Date:  1994-11-09     Revised Date:  2012-02-27    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  367-74     Citation Subset:  IM    
Istituto di Biologia Cellulare, CNR, Rome, Italy.
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MeSH Terms
Chromosomes, Human, Pair 4*
Gene Rearrangement / genetics*
Genetic Linkage
Genetic Markers
Middle Aged
Muscular Dystrophies / genetics*
Nucleic Acid Hybridization
Polymorphism, Genetic
Grant Support
Reg. No./Substance:
0/Genetic Markers

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