Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

Journal of Medical Genetics

Volumn 33, Issue 5, 1996, Pages 361-365

  Deidda, G ^a   Cacurri, S ^a   Piazzo, N ^a   Felicetti, L ^a  

^a CNR   (Italy)

Author keywords

4q35 rearrangements; BlnI restriction; DNA diagnosis; Facioscapulohumeral muscular dystrophy

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 10Q; CHROMOSOME 4Q; CLINICAL ARTICLE; CONTROLLED STUDY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE REARRANGEMENT; GENETIC COUNSELING; HUMAN; HUMAN CELL; MALE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESTRICTION MAPPING; RESTRICTION SITE; SOUTHERN BLOTTING; TANDEM REPEAT;

EID: 0029913030     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.5.361     Document Type: Article

References (10)

1. Sarfarazi M, Wijmenga C, Upadhyaya M, et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 1992;51:396-403.
2. Cacurri S, Deidda G, Piazzo N, et al. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD). Hum Genet 1994;94:367-74.
3. Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genet 1992;2:26-30.
4. Van Deutekom JCT, Wijmenga C, van Tienhoven EAE, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.3 kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-12.
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7. Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the FSHD locus on chromosome 4qter. Eur J Hum Genet 1995;3:155-67.
8. Deidda G, Cacurri S, La Cesa I, Scoppetta C, Felicetti L. 4q35 molecular probes for the diagnosis and genetic counseling of facioscapulohumeral muscular dystrophy. Ann Neurol 1994;36:117-18.
9. Hewitt JE, Lyle R, Clark LN, et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 1994;3:1287-95.
10. Gilbert JR, Stajich JM, Wall S, et al. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1993;53:401-8.