DE-NOVO EXPANSION OF A (CAG)(N) REPEAT IN SPORADIC HUNTINGTONS-DISEASE

被引：207

作者：

MYERS, RH

MACDONALD, ME

KOROSHETZ, WJ

DUYAO, MP

AMBROSE, CM

TAYLOR, SAM

BARNES, G

SRINIDHI, J

LIN, CS

WHALEY, WL

LAZZARINI, AM

SCHWARZ, M

WOLFF, G

BIRD, ED

VONSATTEL, JPG

GUSELLA, JF

机构：

[1] HARVARD UNIV,MASSACHUSETTS GEN HOSP,SCH MED,DEPT NEUROL,BOSTON,MA 02114

[2] HARVARD UNIV,MASSACHUSETTS GEN HOSP,SCH MED,DEPT GENET,BOSTON,MA 02114

[3] HARVARD UNIV,MASSACHUSETTS GEN HOSP,SCH MED,DEPT MOLEC,NEUROGENET UNIT,BOSTON,MA 02114

[4] UNIV MED & DENT NEW JERSEY,ROBERT WOOD JOHNSON MED SCH,DEPT NEUROL,NEW BRUNSWICK,NJ 08903

[5] RHEIN WESTFAL TH AACHEN,NEUROL KLIN,W-5100 AACHEN,GERMANY

[6] UNIV FREIBURG,INST HUMAN GENET & ANTHROPOL,W-7800 FREIBURG,GERMANY

[7] MCLEAN HOSP,MAILMAN RES CTR,RALPH LOWELL LAB,CTR BRAIN TISSUE RESOURCE,BELMONT,MA 02172

来源：

NATURE GENETICS | 1993年 / 5卷 / 02期

关键词：

D O I：

10.1038/ng1093-168

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In four families, elderly unaffected relatives inherited the same chromosome as that containing the expanded repeat in the proband, but had repeat lengths of 34-38 units, spanning the gap between the normal and HD distributions. Thus, mutation to HD is usually associated with an expansion from an already large repeat.

引用

页码：168 / 173

页数：6

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