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Titolo:
TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE
Autore:
DUYAO M; AMBROSE C; MYERS R; NOVELLETTO A; PERSICHETTI F; FRONTALI M; FOLSTEIN S; ROSS C; FRANZ M; ABBOTT M; GRAY J; CONNEALLY P; YOUNG A; PENNEY J; HOLLINGSWORTH Z; SHOULSON I; LAZZARINI A; FALEK A; KOROSHETZ W; SAX D; BIRD E; VONSATTEL J; BONILLA E; ALVIR J; CONDE JB; CHA JH; DURE L; GOMEZ F; RAMOS M; SANCHEZRAMOS J; SNODGRASS S; DEYOUNG M; WEXLER N; MOSCOWITZ C; PENCHASZADEH G; MACFARLANE H; ANDERSON M; JENKINS B; SRINIDHI J; BARNES G; GUSELLA J; MACDONALD M;
Indirizzi:
MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT BOSTON MA 02129 MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT BOSTON MA 02129 BOSTON UNIV,SCH MED,DEPT NEUROL BOSTON MA 02118 UNIV ROMA TOR VERGATA,DEPT BIOL ROME ITALY CNR,INST MED SPERIMENTALE ROME ITALY JOHNS HOPKINS UNIV,SCH MED,DEPT PSYCHIAT BALTIMORE MD 21205 INDIANA UNIV,MED CTR,DEPT MED GENET INDIANAPOLIS IN 46202 MASSACHUSETTS GEN HOSP,DEPT NEUROL BOSTON MA 02114 UNIV ROCHESTER,MED CTR,DEPT NEUROL ROCHESTER NY 14642 UNIV MED & DENT NEW JERSEY,DEPT NEUROL NEW BRUNSWICK NJ 08903 EMORY UNIV,SCH MED,DEPT PSYCHIAT ATLANTA GA 30306 HARVARD UNIV,MCLEAN HOSP,CTR BRAIN TISSUE RESOURCE BELMONT MA 02178 HARVARD UNIV,SCH MED,DEPT NEUROPATHOL BELMONT MA 02178 UNIV ZULIA MARACAIBO VENEZUELA LONG ISL JEWISH MED CTR GLEN OAKS NY 11004 BAYOR UNIV,COLL MED HOUSTON TX 77009 KENNEDY KREIGER INST,NEUROSCI LAB BALTIMORE MD 21205 HOSP VIRGEN CAMINO,SERV GENET E-31008 PAMPLONA SPAIN UNIV MIAMI,DEPT NEUROL MIAMI FL 33136 UNIV MISSISSIPPI,MED CTR JACKSON MS 39216 COLUMBIA UNIV COLL PHYS & SURG,DEPT NEUROL & PSYCHIAT NEW YORK NY 10032 HEREDITARY DIS FDN SANTA MONICA CA 90401 HARVARD UNIV,SCH MED,DEPT GENET BOSTON MA 02114
Titolo Testata:
Nature genetics
fascicolo: 4, volume: 4, anno: 1993,
pagine: 387 - 392
SICI:
1061-4036(1993)4:4<387:TRLIAA>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
BULBAR MUSCULAR-ATROPHY; MYOTONIC-DYSTROPHY; FRAGILE-X; DNA MARKERS; CTG REPEAT; REGION; GENE; RECOMBINATION; DIAGNOSIS; EXPANSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
M. Duyao et al., "TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE", Nature genetics, 4(4), 1993, pp. 387-392

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 11-34repeats. 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 instabilityis reflected in the repeat distribution of HD sperm DNA. The analysisof the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.

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Documento generato il 19/09/20 alle ore 12:53:38