Literature DB >> 8370578

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).

K E Morrison1, R J Daniels, G K Suthers, G A Flynn, M J Francis, P K Grewal, C Dennis, V Buckle, J Ignatius, V Dubowitz.   

Abstract

Autosomal recessive spinal muscular atrophy (SMA) has been mapped to a 6-cM interval on chromosome 5q12-13.3, flanked proximally by locus D5S6 and distally by locus D5S112. In this study we describe the isolation of two new microsatellite markers (EF1/2a and EF13/14) near locus D5S125, which lies 2 cM distal to D5S6. We show by linkage analysis and the study of the recombinants in 55 SMA pedigrees that the disease lies in the 4-cM interval between EF1/2a and D5S112. Fluorescence in situ analysis of cosmids from D5S6, EF1/2 and D5S112 confirms the genetic order and relative distance of markers. The microsatellites EF1/2a and EF13/14 are the first highly polymorphic PCR-based proximal markers in SMA to be described, and will be of value in prenatal prediction of the disorder.

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Year:  1993        PMID： 8370578     DOI： 10.1007/bf00219680

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


  19 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.  Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution.

Authors:  B Müller; F Clerget-Darpoux
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

3.  Yeast artificial chromosome libraries containing large inserts from mouse and human DNA.

Authors:  Z Larin; A P Monaco; H Lehrach
Journal:  Proc Natl Acad Sci U S A       Date:  1991-05-15       Impact factor: 11.205

4.  Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

Authors:  B Müller; J Melki; P Burlet; F Clerget-Darpoux
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

5.  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

6.  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

7.  Construction of multilocus genetic linkage maps in humans.

Authors:  E S Lander; P Green
Journal:  Proc Natl Acad Sci U S A       Date:  1987-04       Impact factor: 11.205

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.  High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

Authors:  K E Morrison; R J Daniels; G K Suthers; G A Flynn; M J Francis; V J Buckle; K E Davies
Journal:  Am J Hum Genet       Date:  1992-03       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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  1 in total

1.  Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.

Authors:  A M Theodosiou; K E Morrison; A M Nesbit; R J Daniels; L Campbell; M J Francis; Z Christodoulou; K E Davies
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025
  1 in total

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