Literature DB >> 8530008

A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.

G van der Steege1, J M Cobben, J Osinga, H Scheffer, G J van Ommen, C H Buys.   

Abstract

The critical region containing the spinal muscular atrophy (SMA) gene is flanked by the 5q11-q13 markers, D5S435 and D5S557, as determined by linkage analysis. Here we present the results of an analysis of a Dutch SMA family with the multicopy microsatellite marker CMS1. A crossover is revealed in the critical SMA region. We conclude that at least one of the CMS1 subloci maps proximal to the SMA gene. This reduces the minimal SMA region from approximately 1.4 Mb to 600-700 kb.

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Year:  1995        PMID: 8530008     DOI: 10.1007/bf00197416

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  17 in total

1.  Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

Authors:  C H Wang; P W Kleyn; E Vitale; B M Ross; L Lien; J Xu; T A Carter; L M Brzustowicz; S Obici; S Selig
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

2.  Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.

Authors:  V M Soares; L M Brzustowicz; P W Kleyn; J A Knowles; D A Palmer; S Asokan; G K Penchaszadeh; T L Munsat; T C Gilliam
Journal:  Genomics       Date:  1993-02       Impact factor: 5.736

3.  Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.

Authors:  O Clermont; P Burlet; L Burglen; S Lefebvre; F Pascal; J McPherson; J J Wasmuth; D Cohen; D Le Paslier; J Weissenbach
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

4.  Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia.

Authors:  T C Gilliam; N B Freimer; C A Kaufmann; P P Powchik; A S Bassett; U Bengtsson; J J Wasmuth
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

5.  The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.

Authors:  N Roy; M S Mahadevan; M McLean; G Shutler; Z Yaraghi; R Farahani; S Baird; A Besner-Johnston; C Lefebvre; X Kang
Journal:  Cell       Date:  1995-01-13       Impact factor: 41.582

6.  Linkage and apparent heterogeneity in proximal spinal muscular atrophies.

Authors:  J M Cobben; H Scheffer; M De Visser; J Osinga; R Frants; G van der Steege; C Wijmenga; L P ten Kate; G J van Ommen; C H Buys
Journal:  Neuromuscul Disord       Date:  1993-07       Impact factor: 4.296

7.  De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Authors:  J Melki; S Lefebvre; L Burglen; P Burlet; O Clermont; P Millasseau; S Reboullet; B Bénichou; M Zeviani; D Le Paslier
Journal:  Science       Date:  1994-06-03       Impact factor: 47.728

8.  Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

Authors:  B Wirth; E Pick; A Leutner; A Dadze; B Voosen; M Knapp; B Piechaczek-Wappenschmidt; S Rudnik-Schöneborn; J Schönling; S Cox
Journal:  Genomics       Date:  1994-03-01       Impact factor: 5.736

9.  Identification of key recombinants in multiplex SMA families.

Authors:  G van der Steege; J M Cobben; C Brahe; J Osinga; S Zappata; H Scheffer; G Neri; G J van Ommen; L P ten Kate; C H Buys
Journal:  Genomics       Date:  1994-07-01       Impact factor: 5.736

10.  Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.

Authors:  C Brahe; I Velonà; G van der Steege; S Zappata; A Y van de Veen; J Osinga; C M Tops; R Fodde; P M Khan; C H Buys
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

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  1 in total

1.  A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.

Authors:  Z Yaraghi; M D McLean; N Roy; L Surh; J E Ikeda; R G Korneluk; A MacKenzie
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

  1 in total

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