Literature DB >> 8094064

Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms.

A MacKenzie1, N Roy, A Besner, G Mettler, P Jacob, R Korneluk, L Surh.   

Abstract

The spinal muscular atrophies (SMA) are among the most common autosomal recessive disorders. We have performed linkage analysis using both standard restriction fragment length polymorphisms (RFLPs) as well as microsatellite polymorphisms [Ca(n)] on 49 Canadian SMA families (types 1, 2, and 3) that both flank and are linked to SMA. The closest SMA linkage was observed with the MAP1B locus (zmax = 8.04, theta max = 0.0). Multipoint linkage analysis gave a high probability of SMA mapping between D5S6 and D5S39. Only one family (type 3) that fulfilled our diagnostic criteria for SMA showed nonlinkage with 5q13 markers. This study shows the feasibility of accurate molecular diagnosis of SMA utilizing 5q13 satellite polymorphisms.

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Year:  1993        PMID： 8094064     DOI： 10.1007/bf00217448

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


  12 in total

1.  Linkage analysis of spinal muscular atrophy.

Authors:  R J Daniels; N H Thomas; R N MacKinnon; T Lehner; J Ott; T J Flint; V Dubowitz; J Ignatius; M Donner; K Zerres
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

2.  Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).

Authors:  T L Munsat; L Skerry; B Korf; B Pober; Y Schapira; G G Gascon; S M al-Rajeh; V Dubowitz; K Davies; L M Brzustowicz
Journal:  Neurology       Date:  1990-12       Impact factor: 9.910

3.  Linkage disequilibrium between two highly polymorphic microsatellites.

Authors:  R Sherrington; G Melmer; M Dixon; D Curtis; B Mankoo; G Kalsi; H Gurling
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

4.  Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

Authors:  L M Brzustowicz; T Lehner; L H Castilla; G K Penchaszadeh; K C Wilhelmsen; R Daniels; K E Davies; M Leppert; F Ziter; D Wood
Journal:  Nature       Date:  1990-04-05       Impact factor: 49.962

5.  Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA.

Authors:  A MacKenzie; A Besner; N Roy
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

6.  Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.

Authors:  P Sheth; S Abdelhak; M F Bachelot; P Burlet; M Masset; D Hillaire; F Clerget-Darpoux; J Frézal; G M Lathrop; A Munnich
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

7.  Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population.

Authors:  A E MacKenzie; H L MacLeod; A G Hunter; R G Korneluk
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

8.  Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.

Authors:  L L Lien; F M Boyce; P Kleyn; L M Brzustowicz; J Menninger; D C Ward; T C Gilliam; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-01       Impact factor: 11.205

9.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

10.  Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

Authors:  J Melki; P Sheth; S Abdelhak; P Burlet; M F Bachelot; M G Lathrop; J Frezal; A Munnich
Journal:  Lancet       Date:  1990-08-04       Impact factor: 79.321
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  5 in total

1.  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

2.  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

3.  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

4.  Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Authors:  D W Parsons; P E McAndrew; S T Iannaccone; J R Mendell; A H Burghes; T W Prior
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

5.  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
  5 in total

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