Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)
Cacurri, S. ; Deidda, G. ; Piazzo, N. ; Novelletto, A. ; Cesa, I. ; Servidei, S. ; Galluzzi, G. ; Wijmenga, C. ; Frants, R. R. ; Felicetti, L.
Springer
Published 1994
Springer
Published 1994
| ISSN: |
1432-1203
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
Abstract 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) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. 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.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295624627519489 |
|---|---|
| autor | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. |
| autorsonst | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. |
| book_url | http://dx.doi.org/10.1007/BF00201595 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM205642209 |
| issn | 1432-1203 |
| journal_name | Human genetics 〈Berlin〉 |
| materialart | 1 |
| notes | Abstract 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) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. 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. |
| package_name | Springer |
| publikationsjahr_anzeige | 1994 |
| publikationsjahr_facette | 1994 |
| publikationsjahr_intervall | 8009:1990-1994 |
| publikationsjahr_sort | 1994 |
| publisher | Springer |
| reference | 94 (1994), S. 367-374 |
| search_space | articles |
| shingle_author_1 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. |
| shingle_author_2 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. |
| shingle_author_3 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. |
| shingle_author_4 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. |
| shingle_catch_all_1 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) Abstract 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) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. 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. 1432-1203 14321203 Springer |
| shingle_catch_all_2 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) Abstract 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) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. 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. 1432-1203 14321203 Springer |
| shingle_catch_all_3 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) Abstract 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) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. 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. 1432-1203 14321203 Springer |
| shingle_catch_all_4 | Cacurri, S. Deidda, G. Piazzo, N. Novelletto, A. Cesa, I. Servidei, S. Galluzzi, G. Wijmenga, C. Frants, R. R. Felicetti, L. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) Abstract 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) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. 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. 1432-1203 14321203 Springer |
| shingle_title_1 | Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) |
| shingle_title_2 | Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) |
| shingle_title_3 | Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) |
| shingle_title_4 | Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:10.474Z |
| titel | Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) |
| titel_suche | Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM205642209 |