Trinucleotide repeat length: instability and age of onset in Huntington’s disease

DUYAO MP; AMBROSE CM; MYERS RH; A NOVELLETTO; Francesca PERSICHETTI; M FRONTALI; FOLSTEIN SE; C ROSS; FRAN ML; M ABBOTT; J GRAY; CONNEALLY PM; A YOUNG; J PENNEY; Z HOLLINGSWORTH; I SHOULSON; LAZZARINI AM; A FALEK; W KOROSHETZ; E BIRD; VONSATTEL JP; E BONILLA; J ALVIR; CONDE J BICKAM; CHA JH; L DURE; F GOME; M RAMOS; RAMOS J SANCHEZ; SNODGRASS SR; YOUNG M DE; N WEXLER; G BARNES; J SRINIDHI; MAC DONALD ME; GUSELLA JF

doi:10.1038/ng0893-387

Trinucleotide repeat length: instability and age of onset in Huntington’s disease

DUYAO MP, AMBROSE CM, MYERS RH, A NOVELLETTO, Francesca PERSICHETTI, M FRONTALI, FOLSTEIN SE, C ROSS, FRAN ML, M ABBOTT, J GRAY, CONNEALLY PM, A YOUNG, J PENNEY, Z HOLLINGSWORTH, I SHOULSON, LAZZARINI AM, A FALEK, W KOROSHETZ, E BIRDVONSATTEL JP, E BONILLA, J ALVIR, CONDE J BICKAM, CHA JH, L DURE, F GOME, M RAMOS, RAMOS J SANCHEZ, SNODGRASS SR, YOUNG M DE, N WEXLER, G BARNES, J SRINIDHI, MAC DONALD ME, GUSELLA JF

Dipartimento di Scienze della Salute

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.

Lingua originale	Inglese
pagine (da-a)	387-392
Numero di pagine	6
Rivista	Nature Genetics
Volume	4
DOI	https://doi.org/10.1038/ng0893-387
Stato di pubblicazione	Pubblicato - 1993

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10.1038/ng0893-387

http://hdl.handle.net/11579/5615

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MP, DUYAO., CM, AMBROSE., RH, MYERS., NOVELLETTO, A., PERSICHETTI, F., FRONTALI, M., SE, FOLSTEIN., ROSS, C., ML, FRAN., ABBOTT, M., GRAY, J., PM, CONNEALLY., YOUNG, A., PENNEY, J., HOLLINGSWORTH, Z., SHOULSON, I., AM, LAZZARINI., FALEK, A., KOROSHETZ, W., ... JF, GUSELLA. (1993). Trinucleotide repeat length: instability and age of onset in Huntington’s disease. Nature Genetics, 4, 387-392. https://doi.org/10.1038/ng0893-387

@article{bb1408b3cb6348c8b4ca9cb1eff0c019,

title = "Trinucleotide repeat length: instability and age of onset in Huntington{\textquoteright}s disease",

abstract = "The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80\% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.",

author = "DUYAO MP and AMBROSE CM and MYERS RH and A NOVELLETTO and Francesca PERSICHETTI and M FRONTALI and FOLSTEIN SE and C ROSS and FRAN ML and M ABBOTT and J GRAY and CONNEALLY PM and A YOUNG and J PENNEY and Z HOLLINGSWORTH and I SHOULSON and LAZZARINI AM and A FALEK and W KOROSHETZ and E BIRD and VONSATTEL JP and E BONILLA and J ALVIR and BICKAM, \{CONDE J\} and CHA JH and L DURE and F GOME and M RAMOS and SANCHEZ, \{RAMOS J\} and SNODGRASS SR and DE, \{YOUNG M\} and N WEXLER and G BARNES and J SRINIDHI and ME, \{MAC DONALD\} and GUSELLA JF",

year = "1993",

doi = "10.1038/ng0893-387",

language = "English",

volume = "4",

pages = "387--392",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

}

MP, DUYAO, CM, AMBROSE, RH, MYERS, NOVELLETTO, A, PERSICHETTI, F, FRONTALI, M, SE, FOLSTEIN, ROSS, C, ML, FRAN, ABBOTT, M, GRAY, J, PM, CONNEALLY, YOUNG, A, PENNEY, J, HOLLINGSWORTH, Z, SHOULSON, I, AM, LAZZARINI, FALEK, A, KOROSHETZ, W, BIRD, E, JP, VONSATTEL, BONILLA, E, ALVIR, J, BICKAM, CONDEJ, JH, CHA, DURE, L, GOME, F, RAMOS, M, SANCHEZ, RAMOSJ, SR, SNODGRASS, DE, YOUNGM, WEXLER, N, BARNES, G, SRINIDHI, J, ME, MACDONALD & JF, GUSELLA 1993, 'Trinucleotide repeat length: instability and age of onset in Huntington’s disease', Nature Genetics, vol. 4, pagg. 387-392. https://doi.org/10.1038/ng0893-387

TY - JOUR

T1 - Trinucleotide repeat length: instability and age of onset in Huntington’s disease

AU - MP, DUYAO

AU - CM, AMBROSE

AU - RH, MYERS

AU - NOVELLETTO, A

AU - PERSICHETTI, Francesca

AU - FRONTALI, M

AU - SE, FOLSTEIN

AU - ROSS, C

AU - ML, FRAN

AU - ABBOTT, M

AU - GRAY, J

AU - PM, CONNEALLY

AU - YOUNG, A

AU - PENNEY, J

AU - HOLLINGSWORTH, Z

AU - SHOULSON, I

AU - AM, LAZZARINI

AU - FALEK, A

AU - KOROSHETZ, W

AU - BIRD, E

AU - JP, VONSATTEL

AU - BONILLA, E

AU - ALVIR, J

AU - BICKAM, CONDE J

AU - JH, CHA

AU - DURE, L

AU - GOME, F

AU - RAMOS, M

AU - SANCHEZ, RAMOS J

AU - SR, SNODGRASS

AU - DE, YOUNG M

AU - WEXLER, N

AU - BARNES, G

AU - SRINIDHI, J

AU - ME, MAC DONALD

AU - JF, GUSELLA

PY - 1993

Y1 - 1993

N2 - The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.

AB - The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.

UR - https://iris.uniupo.it/handle/11579/5615

U2 - 10.1038/ng0893-387

DO - 10.1038/ng0893-387

M3 - Article

SN - 1061-4036

VL - 4

SP - 387

EP - 392

JO - Nature Genetics

JF - Nature Genetics

ER -

Trinucleotide repeat length: instability and age of onset in Huntington’s disease

Abstract

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