Literature DB >> 8432521

Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies.

B Wirth1, B Voosen, D Röhrig, M Knapp, B Piechaczek, S Rudnik-Schöneborn, K Zerres.   

Abstract

The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q12.2-q13, within a genetic distance of about 6 cM, and is proximally flanked by the locus D5S6 and distally by D5S112. Here, we report linkage analyses in 64 SMA families with nine polymorphic markers closely linked to the SMA gene, which allowed us to narrow the SMA region to about 4 cM and to define a new proximal genetic border by the locus D5S125 (EF(TG/AG)n. Based on haplotype analysis and specific recombination events, the following order of the loci was determined: 5cen-D5S76-D5S6-D5S125-SMA-(5'MAP-1B-3'MAP- 1B)/D5S112-JK53CA1/2-(D5S39-D5S127)-5qter. The location of the SMA gene between D5S125 and MAP-1B is further supported by multipoint linkage analysis.

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Year:  1993        PMID： 8432521     DOI： 10.1006/geno.1993.1018

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  11 in total

1.  Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene.

Authors:  J Huschenbett; A Gasch; A Katzer; M Affeldt; A Speer
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

2.  Linkage mapping of the spinal muscular atrophy gene.

Authors:  A H Burghes; S E Ingraham; Z Kóte-Jarai; S Rosenfeld; N Herta; N Nadkarni; C J DiDonato; J Carpten; O Hurko; J Florence
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

3.  Lethal congenital contracture syndrome: further delineation and genetic aspects.

Authors:  K Vuopala; R Herva
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

4.  Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

Authors:  C J DiDonato; K Morgan; J D Carpten; P Fuerst; S E Ingraham; G Prescott; J D McPherson; B Wirth; K Zerres; O Hurko
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

5.  Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.

Authors:  K Vuopala; P Mäkelä-Bengs; A Suomalainen; R Herva; J Leisti; L Peltonen
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

6.  Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Authors:  S Rudnik-Schöneborn; B Wirth; K Zerres
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

7.  Fine mapping of human PI 3-kinase associated p85 alpha transcripts in the YAC contig surrounding the spinal muscular atrophy gene.

Authors:  J Huschenbett; A Gasch; A Katzer; A Speer
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

8.  Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.

Authors:  L M Brzustowicz; C H Wang; D Matseoane; P W Kleyn; E Vitale; K Das; G K Penchaszadeh; T L Munsat; I Hausmanowa-Petrusewicz; T C Gilliam
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration.

Authors:  S A Cook; K R Johnson; R T Bronson; M T Davisson
Journal:  Mamm Genome       Date:  1995-03       Impact factor: 2.957

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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