Literature DB >> 1302016

The Huntington's disease candidate region exhibits many different haplotypes.

M E MacDonald1, A Novelletto, C Lin, D Tagle, G Barnes, G Bates, S Taylor, B Allitto, M Altherr, R Myers.   

Abstract

Analysis of 78 Huntington's disease (HD) chromosomes with multi-allele markers revealed 26 different haplotypes, suggesting a variety of independent HD mutations. The most frequent haplotype, accounting for about one third of disease chromosomes, suggests that the disease gene is between D4S182 and D4S180. However, the paucity of an expected class of chromosomes that can be related to this major haplotype by assuming single crossovers may reflect the operation of other mechanisms in creating haplotype diversity. Some of these mechanisms sustain alternative scenarios that do not require a multiple mutational origin for HD and/or its positioning between D4S182 and D4S180.

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Year:  1992        PMID: 1302016     DOI: 10.1038/ng0592-99

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  53 in total

1.  Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium.

Authors:  P E Bonnen; M D Story; C L Ashorn; T A Buchholz; M M Weil; D L Nelson
Journal:  Am J Hum Genet       Date:  2000-11-14       Impact factor: 11.025

2.  Linkage disequilibrium mapping of quantitative-trait Loci by selective genotyping.

Authors:  Zehua Chen; Gang Zheng; Kaushik Ghosh; Zhaohai Li
Journal:  Am J Hum Genet       Date:  2005-08-15       Impact factor: 11.025

3.  Allele-specific conditional destabilization of glutamine repeat mRNAs.

Authors:  Andrew B Crouse; Peter J Detloff
Journal:  Gene Expr       Date:  2005

Review 4.  Huntington disease--another chapter rewritten.

Authors:  M A Nance
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

Review 5.  RNA surveillance: molecular approaches in transcript quality control and their implications in clinical diseases.

Authors:  Karen C M Moraes
Journal:  Mol Med       Date:  2009-10-07       Impact factor: 6.354

6.  Allelic association under map error and recombinational heterogeneity: a tale of two sites.

Authors:  C Lonjou; A Collins; R S Ajioka; L B Jorde; J P Kushner; N E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-15       Impact factor: 11.205

7.  Genome screens using linkage disequilibrium tests: optimal marker characteristics and feasibility.

Authors:  N H Chapman; E M Wijsman
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

8.  Obsessive-Compulsive Disorder Symptoms in Huntington's Disease: A Case Report.

Authors:  Juan Carlos Molano-Eslava; Angela Iragorri-Cucalón; Gonzalo Ucrós-Rodríguez; Carolina Bonilla-Jácome; Santiago Tovar-Perdomo; David V Herin; Luis Orozco-Cabal
Journal:  Rev Colomb Psiquiatr       Date:  2008-10-01

9.  Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping.

Authors:  L B Jorde; W S Watkins; D Viskochil; P O'Connell; K Ward
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

10.  Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

Authors:  J Yaouanq; M Perichon; M Chorney; P Pontarotti; A Le Treut; A el Kahloun; V Mauvieux; M Blayau; A M Jouanolle; B Chauvel
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

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