Literature DB >> 1985454

Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

D J Kwiatkowski1, T G Nygaard, D E Schuback, S Perman, J M Trugman, S B Bressman, R E Burke, M F Brin, L Ozelius, X O Breakefield.   

Abstract

Dopa-responsive dystonia is a clinical variant of idiopathic torsion dystonia that is distinguished from other forms of dystonia by the frequent occurrence of parkinsonism, diurnal fluctuation of symptoms, and its dramatic therapeutic response to L-dopa. Linkage of a gene causing classic dystonia in a large non-Jewish kindred (DYT1) and in a group of Ashkenazi Jewish families, to the gelsolin (GSN) and arginino-succinate synthetase (ASS) loci on chromosome 9q32-34, respectively, was recently determined. Here we report the discovery of a highly informative (GT)n repeat VNTR polymorphism within the ASS locus. Analysis of a large kindred with dopa-responsive dystonia, using this new polymorphism and conventional RFLPs for the 9q32-34 region, excludes loci in this region as a cause of this form of dystonia. This provides proof of genetic heterogeneity between classic idiopathic torsion dystonia and dopa-responsive dystonia.

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Year:  1991        PMID： 1985454      PMCID： PMC1682762     

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


  39 in total

1.  Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.

Authors:  S B Bressman; D de Leon; M F Brin; N Risch; R E Burke; P E Greene; H Shale; S Fahn
Journal:  Ann Neurol       Date:  1989-11       Impact factor: 10.422

Review 2.  Report of the committee on the genetic constitution of chromosomes 9 and 10.

Authors:  M Smith; N E Simpson
Journal:  Cytogenet Cell Genet       Date:  1989

3.  A mapped set of genetic markers for human chromosome 9.

Authors:  M Lathrop; Y Nakamura; P O'Connell; M Leppert; S Woodward; J M Lalouel; R White
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

4.  An anonymous DNA probe (LAMP 92) detects a Pvu II polymorphism on human chromosome 9 [D9S29].

Authors:  M Pandolfo; C Wagner; M Smith
Journal:  Nucleic Acids Res       Date:  1988-07-25       Impact factor: 16.971

5.  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

6.  TaqI RFLP in human adenylate kinase-1 (AK1) gene region on chromosome 9.

Authors:  N T Bech-Hansen; K J Marshall; S L Kraus
Journal:  Nucleic Acids Res       Date:  1989-05-25       Impact factor: 16.971

7.  Tyrosine hydroxylase and levodopa responsive dystonia.

Authors:  N A Fletcher; I J Holt; A E Harding; T G Nygaard; J Mallet; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-01       Impact factor: 10.154

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.  Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

Authors:  O Zuffardi; A Caiulo; P Maraschio; R Tupler; E Bianchi; P Amisano; G Beluffi; R Moratti; G Liguri
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

10.  Localization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34.

Authors:  S P Craig; V J Buckle; A Lamouroux; J Mallet; I W Craig
Journal:  Cytogenet Cell Genet       Date:  1988
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  10 in total

1.  Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Authors:  H Northrup; D J Kwiatkowski; E S Roach; W B Dobyns; R A Lewis; G E Herman; E Rodriguez; S P Daiger; S H Blanton
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

2.  Dinucleotide repeat polymorphism at the ABL locus (9q34).

Authors:  D J Kwiatkowski
Journal:  Nucleic Acids Res       Date:  1991-02-25       Impact factor: 16.971

3.  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

4.  Modern origin of numerous alternatively spliced human introns from tandem arrays.

Authors:  Degen Zhuo; Richard Madden; Sherif Abou Elela; Benoit Chabot
Journal:  Proc Natl Acad Sci U S A       Date:  2007-01-08       Impact factor: 11.205

5.  Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.

Authors:  D Schuback; P Kramer; L Ozelius; G Holmgren; L Forsgren; M Kyllerman; J Wahlström; C M Craft; T Nygaard; M Brin
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

6.  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

7.  Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

Authors:  L J Ozelius; P L Kramer; D de Leon; N Risch; S B Bressman; D E Schuback; M F Brin; D J Kwiatkowski; R E Burke; J F Gusella
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

8.  Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

Authors:  J L Haines; M P Short; D J Kwiatkowski; A Jewell; E Andermann; B Bejjani; C H Yang; J F Gusella; J A Amos
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

9.  Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

Authors:  D J Kwiatkowski; L Ozelius; P L Kramer; S Perman; D E Schuback; J F Gusella; S Fahn; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

10.  Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

Authors:  A Wiens; S Marles; J Safneck; D J Kwiatkowski; C P Maury; T Zelinski; S Philipps; M B Ekins; C R Greenberg
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025
  10 in total

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