MUTATION SIZE AND AGE AT ONSET IN HUNTINGTONS-DISEASE

被引：38

作者：

CRAUFURD, D

DODGE, A

机构：

[1] Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH, Hathersage Road

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 12期

关键词：

D O I：

10.1136/jmg.30.12.1008

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The mutation responsible for Huntington's disease is a polymorphic (CAG)n repeat sequence which is expanded on affected chromosomes. The number of repeat units observed on 229 affected chromosomes varied from 27 to 102, while the control chromosomes showed a range of 7 to 34 repeats. There was a highly significant relationship between the size of the expanded region and age at onset, larger mutations being associated with earlier onset. This association was strongest in those with onset before 25 years of age but less clear cut with later onset, and is therefore unlikely to be useful for predicting age at onset in the context of presymptomatic testing.

引用

页码：1008 / 1011

页数：4

共 9 条

[1] THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE [J].

ANDREW, SE ;

GOLDBERG, YP ;

KREMER, B ;

TELENIUS, H ;

THEILMANN, J ;

ADAM, S ;

STARR, E ;

SQUITIERI, F ;

LIN, BY ;

KALCHMAN, MA ;

GRAHAM, RK ;

HAYDEN, MR .

NATURE GENETICS, 1993, 4 (04) :398-403

[2] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].

BROOK, JD ;

MCCURRACH, ME ;

HARLEY, HG ;

BUCKLER, AJ ;

CHURCH, D ;

ABURATANI, H ;

HUNTER, K ;

STANTON, VP ;

THIRION, JP ;

HUDSON, T ;

SOHN, R ;

ZEMELMAN, B ;

SNELL, RG ;

RUNDLE, SA ;

CROW, S ;

DAVIES, J ;

SHELBOURNE, P ;

BUXTON, J ;

JONES, C ;

JUVONEN, V ;

JOHNSON, K ;

HARPER, PS ;

SHAW, DJ ;

HOUSMAN, DE .

CELL, 1992, 68 (04) :799-808

[3] TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE [J].

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 .

NATURE GENETICS, 1993, 4 (04) :387-392

[4] THE NATURAL-HISTORY OF HUNTINGTON DISEASE - POSSIBLE ROLE OF AGING GENES [J].

FARRER, LA ;

CONNEALLY, PM ;

YU, P .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 18 (01) :115-123

[5]

Harper PS, 1991, HUNTINGTONS DISEASE

[6]

KRAWCZAK M, 1991, AM J HUM GENET, V49, P735

[7] A NOVEL GENE CONTAINING A TRINUCLEOTIDE REPEAT THAT IS EXPANDED AND UNSTABLE ON HUNTINGTONS-DISEASE CHROMOSOMES [J].

MACDONALD, ME ;

AMBROSE, CM ;

DUYAO, MP ;

MYERS, RH ;

LIN, C ;

SRINIDHI, L ;

BARNES, G ;

TAYLOR, SA ;

JAMES, M ;

GROOT, N ;

MACFARLANE, H ;

JENKINS, B ;

ANDERSON, MA ;

WEXLER, NS ;

GUSELLA, JF ;

BATES, GP ;

BAXENDALE, S ;

HUMMERICH, H ;

KIRBY, S ;

NORTH, M ;

YOUNGMAN, S ;

MOTT, R ;

ZEHETNER, G ;

SEDLACEK, Z ;

POUSTKA, A ;

FRISCHAUF, AM ;

LEHRACH, H ;

BUCKLER, AJ ;

CHURCH, D ;

DOUCETTESTAMM, L ;

ODONOVAN, MC ;

RIBARAMIREZ, L ;

SHAH, M ;

STANTON, VP ;

STROBEL, SA ;

DRATHS, KM ;

WALES, JL ;

DERVAN, P ;

HOUSMAN, DE ;

ALTHERR, M ;

SHIANG, R ;

THOMPSON, L ;

FIELDER, T ;

WASMUTH, JJ ;

TAGLE, D ;

VALDES, J ;

ELMER, L ;

ALLARD, M ;

CASTILLA, L ;

SWAROOP, M .

CELL, 1993, 72 (06) :971-983

[8] RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT EXPANSION AND PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE [J].

SNELL, RG ;

MACMILLAN, JC ;

CHEADLE, JP ;

FENTON, I ;

LAZAROU, LP ;

DAVIES, P ;

MACDONALD, ME ;

GUSELLA, JF ;

HARPER, PS ;

SHAW, DJ .

NATURE GENETICS, 1993, 4 (04) :393-397

[9] IDENTIFICATION OF A GENE (FMR-1) CONTAINING A CGG REPEAT COINCIDENT WITH A BREAKPOINT CLUSTER REGION EXHIBITING LENGTH VARIATION IN FRAGILE-X SYNDROME [J].

VERKERK, AJMH ;

PIERETTI, M ;

SUTCLIFFE, JS ;

FU, YH ;

KUHL, DPA ;

PIZZUTI, A ;

REINER, O ;

RICHARDS, S ;

VICTORIA, MF ;

ZHANG, FP ;

EUSSEN, BE ;

VANOMMEN, GJB ;

BLONDEN, LAJ ;

RIGGINS, GJ ;

CHASTAIN, JL ;

KUNST, CB ;

GALJAARD, H ;

CASKEY, CT ;

NELSON, DL ;

OOSTRA, BA ;

WARREN, ST .

CELL, 1991, 65 (05) :905-914

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