THE MOLECULAR-GENETICS OF HUNTINGTONS-DISEASE

被引：28

作者：

GOLDBERG, YP ^{[1
]}

TELENIUS, H ^{[1
]}

HAYDEN, MR ^{[1
]}

机构：

[1] UNIV BRITISH COLUMBIA, DEPT MED GENET, 416-2125 E MALL, NCE BLDG, VANCOUVER V6T 1Z4, BC, CANADA

来源：

CURRENT OPINION IN NEUROLOGY | 1994年 / 7卷 / 04期

关键词：

D O I：

10.1097/00019052-199408000-00009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The past year has witnessed outstanding developments in research on Huntington's disease (HD). A gene was identified that contains an expanded CAG trinucleotide repeat on HD chromosomes. Patterns of expression of this gene and the nature of two transcripts were identified. CAG repeat size ranges between 36 and 121 in affected persons, and it is a highly sensitive and specific marker for HD. A correlation between CAG repeat size and the age of onset of HD was demonstrated. Identification of this mutation has facilitated direct approaches to predictive testing for HD. The new mutation rate, previously deemed to be exceedingly rare, is now shown to be responsible for up to 3% of affected persons. Although the mechanism by which CAG repeat length induces neuronal death is not known, there is evidence that the pathogenesis involves a gain of function in the HD gene.

引用

页码：325 / 332

页数：8

共 53 条

[11] TRANSCRIPTIONAL ACTIVATION MODULATED BY HOMOPOLYMERIC GLUTAMINE AND PROLINE STRETCHES [J].

GERBER, HP ;

SEIPEL, K ;

GEORGIEV, O ;

HOFFERER, M ;

HUG, M ;

RUSCONI, S ;

SCHAFFNER, W .

SCIENCE, 1994, 263 (5148) :808-811

[12] MOLECULAR ANALYSIS OF NEW MUTATIONS FOR HUNTINGTONS-DISEASE - INTERMEDIATE ALLELES AND SEX OF ORIGIN EFFECTS [J].

GOLDBERG, YP ;

KREMER, B ;

ANDREW, SE ;

THEILMANN, J ;

GRAHAM, RK ;

SQUITIERI, F ;

TELENIUS, H ;

ADAM, S ;

SAJOO, A ;

STARR, E ;

HEIBERG, A ;

WOLFF, G ;

HAYDEN, MR .

NATURE GENETICS, 1993, 5 (02) :174-179

[13] FAMILIAL PREDISPOSITION TO RECURRENT MUTATIONS CAUSING HUNTINGTONS-DISEASE - GENETIC RISK TO SIBS OF SPORADIC CASES [J].

GOLDBERG, YP ;

ANDREW, SE ;

THEILMANN, J ;

KREMER, B ;

SQUITIERI, F ;

TELENIUS, H ;

BROWN, JD ;

HAYDEN, MR .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (12) :987-990

[14] A POLYMORPHIC DNA MARKER GENETICALLY LINKED TO HUNTINGTONS-DISEASE [J].

GUSELLA, JF ;

WEXLER, NS ;

CONNEALLY, PM ;

NAYLOR, SL ;

ANDERSON, MA ;

TANZI, RE ;

WATKINS, PC ;

OTTINA, K ;

WALLACE, MR ;

SAKAGUCHI, AY ;

YOUNG, AB ;

SHOULSON, I ;

BONILLA, E ;

MARTIN, JB .

NATURE, 1983, 306 (5940) :234-238

[15]

Harper PS, 1991, HUNTINGTONS DISEASE

[16]

Hayden MR., 1981, HUNTINGTONS CHOREA, P45

[17] CHARACTERIZATION AND LOCALIZATION OF THE HUNTINGTON DISEASE GENE-PRODUCT [J].

HOOGEVEEN, AT ;

WILLEMSEN, R ;

MEYER, N ;

DEROOIJ, KE ;

ROOS, RAC ;

VANOMMEN, GJB ;

GALJAARD, H .

HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2069-2073

[18] ORIGIN OF THE EXPANSION MUTATION IN MYOTONIC-DYSTROPHY [J].

IMBERT, G ;

KRETZ, C ;

JOHNSON, K ;

MANDEL, JL .

NATURE GENETICS, 1993, 4 (01) :72-76

[19] CYTOPLASMIC REGULATION OF MESSENGER-RNA FUNCTION - THE IMPORTANCE OF THE 3' UNTRANSLATED REGION [J].

JACKSON, RJ .

CELL, 1993, 74 (01) :9-14

[20]

JANSEN G, 1994, AM J HUM GENET, V54, P575

← 1 2 3 4 5 6 →