Academic Journal
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
| العنوان: | Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy |
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| المؤلفون: | Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U., FERLINI, Alessandra |
| المساهمون: | Kunkel, Lm, Hejtmancik, Jf, Caskey, Ct, Speer, A, Monaco, Ap, Middlesworth, W, Colletti, Ca, Bertelson, C, Müller, U, Bresnan, M, Shapiro, F, Tantravahi, U, Speer, J, Latt, Sa, Bartlett, R, Pericak Vance, Ma, Roses, Ad, Thompson, Mw, Ray, Pn, Worton, Rg, Fischbeck, Kh, Gallano, P, Coulon, M, Duros, C, Boue, J, Junien, C, Chelly, J, Hamard, G, Jeanpierre, M, Lambert, M, Kaplan, Jc, Emery, A, Dorkins, H, Mcglade, S, Davies, Ke, Boehm, C, Arveiler, B, Lemaire, C, Morgan, Gj, Denton, Mj, Amos, J, Bobrow, M, Benham, F, Boswinkel, E, Cole, C, Dubowitz, V, Hart, K, Hodgson, S, Johnson, L, Walker, A, Roncuzzi, L, Ferlini, Alessandra, Nobile, C, Romeo, G, Wilcox, De, Affara, Na, Ferguson Smith, Ma, Lindolf, M, Kaariainen, H, de la Chapelle, A, Ionasescu, V, Searby, C, Ionasescu, R, Bakker, E, van Ommen, Gj, Pearson, Pl, Greenberg, Cr, Hamerton, Jl, Wrogemann, K, Doherty, Ra, Polakowska, R, Hyser, C, Quirk, S, Thomas, N, Harper, Jf, Darras, Bt, Francke, U. |
| سنة النشر: | 1986 |
| المجموعة: | Università degli Studi di Ferrara: CINECA IRIS |
| الوصف: | Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder for which the biochemical defect is as yet unknown. Recently, two cloned segments of human X-chromosome DNA have been described which detect structural alterations within or near the genetic locus responsible for the disorder. Both of these cloned segments were described as tightly linked to the locus and were capable of detecting deletions in the DNA of boys affected with DMD. In an attempt to determine more precisely the occurrence of these deletions within a large population of DMD patients and the accuracy of one of the segments, DXS164 (pERT87), in determining the inheritance of the DMD X chromosome, the subclones 1, 8 and 15 were made available to many investigators throughout the world. Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy (BMD). The results indicate that the DXS164 locus apparently recombines with DMD 5% of the time, but is probably located between independent sites of mutation which yield DMD. The breakpoints of some deletions are delineated within the DXS164 locus, and it is evident that the deletions at the DMD locus are frequent and extremely large. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:A1986D077300064; volume:322; issue:6074; firstpage:73; lastpage:77; numberofpages:5; journal:NATURE; http://hdl.handle.net/11392/1679325; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0022444372 |
| DOI: | 10.1038/322073a0 |
| الاتاحة: | http://hdl.handle.net/11392/1679325 https://doi.org/10.1038/322073a0 |
| رقم الانضمام: | edsbas.D58E5761 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/322073a0 |
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