Literature DB >> 2358306

Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia.

J Wallis1, R Williamson, S Chamberlain.   

Abstract

We have identified a hypervariable microsatellite sequence within the chromosome 9 marker MCT112 (D9S15), which we have previously shown to be tightly linked to Friedreich's ataxia (FRDA). The system detects 7 alleles ranging in size from 195 to 209 base pairs, and substantially increases informativity at the MCT112 locus. This enhances its use for genetic counselling in affected families. Recalculated combined linkage data between the FRDA locus and MCT112 gives a maximal lod score of 66.91 at a recombination fraction of theta = 0). There is no evidence of linkage disequilibrium.

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Year:  1990        PMID： 2358306     DOI： 10.1007/bf00276331

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


  10 in total

1.  Prenatal diagnosis of Friedreich ataxia.

Authors:  J Wallis; J Shaw; D Wilkes; M Farrall; R Williamson; S Chamberlain; J C Skare; A Milunsky
Journal:  Am J Med Genet       Date:  1989-11

2.  Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.

Authors:  R Fujita; Y Agid; P Trouillas; A Seck; C Tommasi-Davenas; A J Driesel; K Olek; K H Grzeschik; Y Nakamura; J L Mandel; A Hanauer
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

3.  Hypervariability of simple sequences as a general source for polymorphic DNA markers.

Authors:  D Tautz
Journal:  Nucleic Acids Res       Date:  1989-08-25       Impact factor: 16.971

4.  Variable number of tandem repeat (VNTR) markers for human gene mapping.

Authors:  Y Nakamura; M Leppert; P O'Connell; R Wolff; T Holm; M Culver; C Martin; E Fujimoto; M Hoff; E Kumlin
Journal:  Science       Date:  1987-03-27       Impact factor: 47.728

5.  Mapping of mutation causing Friedreich's ataxia to human chromosome 9.

Authors:  S Chamberlain; J Shaw; A Rowland; J Wallis; S South; Y Nakamura; A von Gabain; M Farrall; R Williamson
Journal:  Nature       Date:  1988-07-21       Impact factor: 49.962

6.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

7.  Regional localisation of the Friedreich ataxia locus to human chromosome 9q13----q21.1.

Authors:  J Shaw; P Lichter; A J Driesel; R Williamson; S Chamberlain
Journal:  Cytogenet Cell Genet       Date:  1990

8.  A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

Authors:  M Litt; J A Luty
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.

Authors:  S Chamberlain; J Shaw; J Wallis; A Rowland; L Chow; M Farrall; B Keats; A Richter; M Roy; S Melancon
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025
  10 in total
  11 in total

1.  Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.

Authors:  G Sirugo; B Keats; R Fujita; F Duclos; K Purohit; M Koenig; J L Mandel
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

2.  Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Authors:  N G Laing; B T Majda; P A Akkari; M G Layton; J C Mulley; H Phillips; E A Haan; S J White; A H Beggs; L M Kunkel
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

Review 3.  Molecular biology made easy. The polymerase chain reaction.

Authors:  A M Clarke; N P Mapstone; P Quirke
Journal:  Histochem J       Date:  1992-12

4.  Highly informative dinucleotide repeat polymorphism at the D11S29 locus on chromosome 11q23.

Authors:  L Warnich; I Groenewald; L Theart; A E Retief
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

5.  Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Authors:  I P Blair; J Nash; M J Gordon; G A Nicholson
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

6.  A recombinant Friedreich's ataxia family.

Authors:  G Lucotte; S Berriche; J C Turpin
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

7.  An index marker map of chromosome 9 provides strong evidence for positive interference.

Authors:  D J Kwiatkowski; C Dib; S A Slaugenhaupt; S Povey; J F Gusella; J L Haines
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

8.  Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

Authors:  S Belal; K Panayides; G Sirugo; C Ben Hamida; P Ioannou; F Hentati; J Beckmann; M Koenig; J L Mandel; M Ben Hamida
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

9.  Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.

Authors:  L Pianese; S Cocozza; G Campanella; I Castaldo; F Cavalcanti; G De Michele; A Filla; A Monticelli; M Munaro; E Redolfi
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

10.  Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Authors:  G De Michele; A Filla; F Cavalcanti; L Di Maio; L Pianese; I Castaldo; O Calabrese; A Monticelli; S Varrone; G Campanella
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-08       Impact factor: 10.154
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