Literature DB >> 7825579

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

C H Wang1, P W Kleyn, E Vitale, B M Ross, L Lien, J Xu, T A Carter, L M Brzustowicz, S Obici, S Selig.   

Abstract

We report the mapping and characterization of 12 microsatellite markers including 11 novel markers. All markers were generated from overlapping YAC clones that span the spinal muscular atrophy (SMA) locus. PCR amplification of 32 overlapping YAC clones shows that 9 of the new markers (those set in italics) map to the interval between the two previous closest flanking markers (D5S629 and D5S557): cen-D5S6-D5S125-D5S435-D5S1407- D5S629-D5S1410-D5S1411/D5S1412-D5S1413- D5S1414-D5Z8-D5Z9-CATT1-D5Z10/D5Z6- D5S557-D5S1408-D5S1409-D5S637-D5S351-MA P1B-tel. Four of these new markers detect multiple loci in and out of the SMA gene region. Genetic analysis of recombinant SMA families indicates that D5S1413 is a new proximal flanking locus for the SMA gene. Interestingly, among the 40 physically mapped loci, the 14 multilocus markers map contiguously to a genomic region that overlaps, and perhaps helps define, the minimum genetic region encompassing the SMA gene(s).

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Year:  1995        PMID： 7825579      PMCID： PMC1801348     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  22 in total

1.  Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction.

Authors:  E D Green; M V Olson
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

2.  Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Authors:  J Melki; S Abdelhak; P Sheth; M F Bachelot; P Burlet; A Marcadet; J Aicardi; A Barois; J P Carriere; M Fardeau
Journal:  Nature       Date:  1990-04-19       Impact factor: 49.962

3.  Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents.

Authors:  H M Albertsen; H Abderrahim; H M Cann; J Dausset; D Le Paslier; D Cohen
Journal:  Proc Natl Acad Sci U S A       Date:  1990-06       Impact factor: 11.205

4.  A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones.

Authors:  J Riley; R Butler; D Ogilvie; R Finniear; D Jenner; S Powell; R Anand; J C Smith; A F Markham
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

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.  High resolution physical map of the region surrounding the spinal muscular atrophy gene.

Authors:  T G Thompson; K E Morrison; P Kleyn; U Bengtsson; T C Gilliam; K E Davies; J J Wasmuth; J D McPherson
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

7.  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

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.  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

10.  Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.

Authors:  T C Gilliam; L M Brzustowicz; L H Castilla; T Lehner; G K Penchaszadeh; R J Daniels; B C Byth; J Knowles; J E Hislop; Y Shapira
Journal:  Nature       Date:  1990-06-28       Impact factor: 49.962
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  6 in total

1.  Spinal muscular atrophy genetic testing experience at an academic medical center.

Authors:  Shuji Ogino; Debra G B Leonard; Hanna Rennert; Robert B Wilson
Journal:  J Mol Diagn       Date:  2002-02       Impact factor: 5.568

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

Authors:  G van der Steege; J M Cobben; J Osinga; H Scheffer; G J van Ommen; C H Buys
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

3.  Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

Authors:  S Ranta; A E Lehesjoki; A Hirvasniemi; J Weissenbach; B Ross; S M Leal; A de la Chapelle; T C Gilliam
Journal:  Genome Res       Date:  1996-05       Impact factor: 9.043

4.  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

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

6.  Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.

Authors:  S Selig; S Bruno; J M Scharf; C H Wang; E Vitale; T C Gilliam; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  1995-04-25       Impact factor: 11.205
  6 in total

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