{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:48:13Z","timestamp":1791316093030,"version":"4.3.1"},"reference-count":9,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,5]]},"abstract":"<jats:p>The p13E-11 probe has been shown to detect DNA rearrangements in sporadic and familial cases of FSHD. Its use, however, has been hampered by the fact that it detects at least two pairs of EcoRI alleles, one derived from the 4q35 region (D4F104S1), the other from 10q26 (D10F104S2). We have cloned p13E-11 EcoRI fragments from the 4q35 and 10q26 subtelomeric regions and shown the presence of several restriction site differences within the KpnI tandem repeat units. The two loci present a different distribution of restriction sites for the enzyme BlnI which allows differential cleavage of the KpnI units derived from 10q26, leaving intact the 4q35 pair of alleles. This method of differential restriction greatly facilitates the interpretation of Southern blots obtained from affected and unaffected subjects, with an important improvement in reliability for diagnosis and genetic counselling. In addition, this method can be used to investigate the molecular mechanism of the 4q35 rearrangement implicated in the disease and to ascertain whether the rearrangement is because of interchromosomal exchange between 4qter and 10qter KpnI repeats.<\/jats:p>","DOI":"10.1136\/jmg.33.5.361","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"361-365","source":"Crossref","is-referenced-by-count":128,"title":["Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)."],"prefix":"10.1136","volume":"33","author":[{"given":"G","family":"Deidda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Cacurri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Piazzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Felicetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","first-page":"396","article-title":"Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium","volume":"51","author":"Sarfarazi, M.; Wijmenga, C.; Upadhyaya, M.","year":"1992","unstructured":"Sarfarazi M, Wijmenga C, Upadhyaya M, et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am Jf Hum Genet 1992;51:396-403.","journal-title":"Am Jf Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/BF00201595","article-title":"Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)","volume":"94","author":"Cacurri, S.; Deidda, G.; Piazzo, N.","year":"1994","unstructured":"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.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/hmg\/2.12.2037","article-title":"FSHD associated DNA rearrangements are due to deletions of integral copies of a 3-3 kb tandemly repeated unit","volume":"2","author":"JCT, Van Deutekom; C, Wijmenga; van Tienhoven EAE","year":"1993","unstructured":"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;2:2037-42.","journal-title":"Hum Mol Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1006\/geno.1994.1006","article-title":"Pulse field gel electrophoresis of the D4F1O4S1 locus reveals the size and the paternal origin of the FSHD-associated deletions","volume":"19","author":"Wijmenga, C.; van Deutekom, J.C.T.; Hewitt, J.E.","year":"1994","unstructured":"Wijmenga C, van Deutekom JCT, Hewitt JE, et al. Pulse field gel electrophoresis of the D4F1O4S1 locus reveals the size and the paternal origin of the FSHD-associated deletions. Genomics 1994;19:21-6.","journal-title":"Genomics"},{"key":"ref_5","first-page":"177","article-title":"The FSHD locus (pl3E-11) on 4qter shows high homology with 1Oqter","volume":"1","author":"Wijmenga, C.; Bakker, B.; Hofker, M.H.","year":"1994","unstructured":"Wijmenga C, Bakker B, Hofker MH, et al. The FSHD locus (pl3E-11) on 4qter shows high homology with 1Oqter. Muscle Nerve 1994;suppl 1:S 177.","journal-title":"Muscle Nerve"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1159\/000472291","article-title":"Physical mapping evidence for a duplicated region on chromosome 1Oqter showing high homology with the FSHD locus on chromosome 4qter","volume":"3","author":"Deidda, G.; Cacurri, S.; Grisanti, P.; Vigneti, E.; Piazzo, N.; Felicetti, L.","year":"1995","unstructured":"Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. Physical mapping evidence for a duplicated region on chromosome 1Oqter showing high homology with the FSHD locus on chromosome 4qter. Eur J Hum Genet 1995;3:155-67.","journal-title":"Eur J Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/ana.410360128","article-title":"4q35 molecular probes for the diagnosis and genetic counseling of facioscapulohumeral muscular dystrophy","volume":"36","author":"Deidda, G.; Cacurri, S.; La Cesa, I.; Scoppetta, C.; Felicetti, L.","year":"1994","unstructured":"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.","journal-title":"Ann Neurol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1093\/hmg\/3.8.1287","article-title":"Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy","volume":"3","author":"Hewitt, J.E.; Lyle, R.; Clark, L.N.","year":"1994","unstructured":"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.","journal-title":"Hum Mol Genet"},{"key":"ref_9","first-page":"401","article-title":"Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)","volume":"53","author":"Gilbert, JR, Stajich; JM, Wall; S.","year":"1993","unstructured":"Gilbert JR, Stajich JM, Wall S, et al. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am JHum Genet 1993;53:401-8.","journal-title":"Am JHum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.5.361","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:03:36Z","timestamp":1760763816000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.5.361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,5]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1996,5,1]]},"published-print":{"date-parts":[[1996,5]]}},"alternative-id":["10.1136\/jmg.33.5.361"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.5.361","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,5]]}}}