Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions

ISSN:
0888-7543
Source:
Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
Topics:
Biology
Medicine
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1006/geno.1994.1006
_version_ 1798292083840122880
autor Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
autorsonst Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
book_url http://dx.doi.org/10.1006/geno.1994.1006
datenlieferant nat_lic_papers
fussnote Recently, probe p13E-11 (D4F104S1) was shown to identify de novo DNA rearrangements, which are associated with the development of facioscapulohumeral muscular dystrophy (FSHD). These rearrangements are likely to become instrumental in cloning the FSHD gene itself. Analysis by pulsed-field gel electrophoresis demonstrates that p13E-11 recognizes two highly polymorphic loci, with HindIII restriction fragments ranging in size from about 30 to 320 kb. Haplotype analysis unambiguously assigned one of the two loci to chromosome 4q35. The detection of identical NotI or Nru I fragments with both CEB8 (D4F35S1) and p13E-11 demonstrated that the DNA rearrangements are deletions that are restricted to the HindIII fragments detectable by p13E-11. In two cases, the sizes of the deletion could be established and were found to be 25 and 85 kb in length, respectively. So far, we have been able to define the parental origin of the mutation in seven different patients and have found that in five cases the maternal allele was involved.
hauptsatz hsatz_simple
identnr NLZ183734068
issn 0888-7543
journal_name Genomics
materialart 1
package_name Elsevier
publikationsort Amsterdam
publisher Elsevier
reference 19 (1994), S. 21-26
search_space articles
shingle_author_1 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
shingle_author_2 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
shingle_author_3 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
shingle_author_4 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
shingle_catch_all_1 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
0888-7543
08887543
Elsevier
shingle_catch_all_2 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
0888-7543
08887543
Elsevier
shingle_catch_all_3 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
0888-7543
08887543
Elsevier
shingle_catch_all_4 Wijmenga, C.
van Deutekom, J.C.T.
Hewitt, J.E.
Padberg, G.W.
van Ommen, G.-J.B.
Hofker, M.H.
Frants, R.R.
Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
0888-7543
08887543
Elsevier
shingle_title_1 Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
shingle_title_2 Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
shingle_title_3 Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
shingle_title_4 Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
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source_archive Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
timestamp 2024-05-06T08:42:53.178Z
titel Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
titel_suche Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
Recently, probe p13E-11 (D4F104S1) was shown to identify de novo DNA rearrangements, which are associated with the development of facioscapulohumeral muscular dystrophy (FSHD). These rearrangements are likely to become instrumental in cloning the FSHD gene itself. Analysis by pulsed-field gel electrophoresis demonstrates that p13E-11 recognizes two highly polymorphic loci, with HindIII restriction fragments ranging in size from about 30 to 320 kb. Haplotype analysis unambiguously assigned one of the two loci to chromosome 4q35. The detection of identical NotI or Nru I fragments with both CEB8 (D4F35S1) and p13E-11 demonstrated that the DNA rearrangements are deletions that are restricted to the HindIII fragments detectable by p13E-11. In two cases, the sizes of the deletion could be established and were found to be 25 and 85 kb in length, respectively. So far, we have been able to define the parental origin of the mutation in seven different patients and have found that in five cases the maternal allele was involved.
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uid nat_lic_papers_NLZ183734068