Literature DB >> 7616551

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.

C Pêcheux1, J F Mouret, A Dürr, Y Agid, J Feingold, A Brice, C Dodé, J C Kaplan.   

Abstract

The CAG expansion responsible for Huntington's disease (HD) is followed by an adjacent polymorphic CCG repeat region which may interfere with a PCR based diagnosis. We have sequenced this region in 52 unrelated HD patients, from both normal and HD chromosomes. Fifty percent of the normal alleles were (CCG)7(CCT)2, 48% (CCG)10(CCT)2, and 2% (CCG)7(CCT)3. In contrast (CCG)7(CCT)2 was found in 85% of the HD alleles which represents significant linkage disequilibrium with the HD mutation.

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Year:  1995        PMID： 7616551      PMCID： PMC1050439          DOI： 10.1136/jmg.32.5.399

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population.

Authors:  L H Barron; A Rae; S Holloway; D J Brock; J P Warner
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

2.  Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.

Authors:  D C Rubinsztein; D E Barton; B C Davison; M A Ferguson-Smith
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150

3.  A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.

Authors:  S E Andrew; Y P Goldberg; J Theilmann; J Zeisler; M R Hayden
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

4.  Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.

Authors:  C Dodé; A Dürr; C Pêcheux; J F Mouret; S Belal; L Bachner; Y Agid; J C Kaplan; A Brice; J Feingold
Journal:  C R Acad Sci III       Date:  1993-11
  4 in total
  9 in total

1.  A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease.

Authors:  Kristina Bečanović; Anne Nørremølle; Scott J Neal; Chris Kay; Jennifer A Collins; David Arenillas; Tobias Lilja; Giulia Gaudenzi; Shiana Manoharan; Crystal N Doty; Jessalyn Beck; Nayana Lahiri; Elodie Portales-Casamar; Simon C Warby; Colúm Connolly; Rebecca A G De Souza; Sarah J Tabrizi; Ola Hermanson; Douglas R Langbehn; Michael R Hayden; Wyeth W Wasserman; Blair R Leavitt
Journal:  Nat Neurosci       Date:  2015-05-04       Impact factor: 24.884

2.  Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Authors:  Galen E B Wright; Jennifer A Collins; Chris Kay; Cassandra McDonald; Egor Dolzhenko; Qingwen Xia; Kristina Bečanović; Britt I Drögemöller; Alicia Semaka; Charlotte M Nguyen; Brett Trost; Fiona Richards; Emilia K Bijlsma; Ferdinando Squitieri; Colin J D Ross; Stephen W Scherer; Michael A Eberle; Ryan K C Yuen; Michael R Hayden
Journal:  Am J Hum Genet       Date:  2019-05-16       Impact factor: 11.025

Review 3.  Huntington's Disease Pathogenesis: Two Sequential Components.

Authors:  Eun Pyo Hong; Marcy E MacDonald; Vanessa C Wheeler; Lesley Jones; Peter Holmans; Michael Orth; Darren G Monckton; Jeffrey D Long; Seung Kwak; James F Gusella; Jong-Min Lee
Journal:  J Huntingtons Dis       Date:  2021

4.  Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.

Authors:  Jong-Min Lee; Yuan Huang; Michael Orth; Tammy Gillis; Jacqueline Siciliano; Eunpyo Hong; Jayalakshmi Srinidhi Mysore; Diane Lucente; Vanessa C Wheeler; Ihn Sik Seong; Zachariah L McLean; James A Mills; Branduff McAllister; Sergey V Lobanov; Thomas H Massey; Marc Ciosi; G Bernhard Landwehrmeyer; Jane S Paulsen; E Ray Dorsey; Ira Shoulson; Cristina Sampaio; Darren G Monckton; Seung Kwak; Peter Holmans; Lesley Jones; Marcy E MacDonald; Jeffrey D Long; James F Gusella
Journal:  Am J Hum Genet       Date:  2022-03-23       Impact factor: 11.043

5.  Current Status of Huntington's Disease in Korea: A Nationwide Survey and National Registry Analysis.

Authors:  Hyun Sook Kim; Chul Hyoung Lyoo; Phil Hyu Lee; Sang Jin Kim; Mee Young Park; Hyeo-Il Ma; Jae Hyeok Lee; Sook Kun Song; Jong Sam Baik; Jin Ho Kim; Myung Sik Lee
Journal:  J Mov Disord       Date:  2015-01-13

Review 6.  Huntington Disease in Asia.

Authors:  Miao Xu; Zhi-Ying Wu
Journal:  Chin Med J (Engl)       Date:  2015-07-05       Impact factor: 2.628

7.  CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset.

Authors: 
Journal:  Cell       Date:  2019-08-08       Impact factor: 41.582

Review 8.  Huntington's disease: nearly four decades of human molecular genetics.

Authors:  James F Gusella; Jong-Min Lee; Marcy E MacDonald
Journal:  Hum Mol Genet       Date:  2021-10-01       Impact factor: 5.121

9.  Survival of Korean Huntington's Disease Patients.

Authors:  Han-Joon Kim; Chae-Won Shin; Beomseok Jeon; Hyeyoung Park
Journal:  J Mov Disord       Date:  2016-09-21
  9 in total

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