Literature DB >> 7635477

Somatic stability in chorionic villi samples and other Huntington fetal tissues.

J Benitez1, M Robledo, C Ramos, C Ayuso, R Astarloa, J Garcia Yébenes, B Brambati.   

Abstract

We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.

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Year:  1995        PMID： 7635477     DOI： 10.1007/bf00207386

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


  11 in total

1.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Authors: 
Journal:  Cell       Date:  1993-03-26       Impact factor: 41.582

2.  Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease.

Authors:  O Riess; A Noerremoelle; S A Soerensen; J T Epplen
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

3.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

4.  The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.

Authors:  S E Andrew; Y P Goldberg; B Kremer; H Telenius; J Theilmann; S Adam; E Starr; F Squitieri; B Lin; M A Kalchman
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

5.  Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Authors:  R G Snell; J C MacMillan; J P Cheadle; I Fenton; L P Lazarou; P Davies; M E MacDonald; J F Gusella; P S Harper; D J Shaw
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

6.  Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

Authors:  H Telenius; B Kremer; Y P Goldberg; J Theilmann; S E Andrew; J Zeisler; S Adam; C Greenberg; E J Ives; L A Clarke
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

7.  Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region.

Authors:  B Weber; A Hedrick; S Andrew; O Riess; C Collins; D Kowbel; M R Hayden
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

8.  Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease.

Authors:  J Benitez; E Fernandez; P Garcia Ruiz; M Robledo; C Ramos; J Yébenes
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

9.  Gametic but not somatic instability of CAG repeat length in Huntington's disease.

Authors:  M E MacDonald; G Barnes; J Srinidhi; M P Duyao; C M Ambrose; R H Myers; J Gray; P M Conneally; A Young; J Penney
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

10.  Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene.

Authors:  C Zühlke; O Riess; B Bockel; H Lange; U Thies
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150
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  2 in total

1.  ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.

Authors: 
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

2.  Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.

Authors:  Zhi Yang; Rachel Lau; Julien L Marcadier; David Chitayat; Christopher E Pearson
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025
  2 in total

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