The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls

被引：8

作者：

Keckarevic, D

Culjkovic, B

Savic, D

Stojkovic, O

Kostic, V

Vukosavic, S

Romac, S

机构：

[1] Univ Belgrade, Fac Biol, YU-11000 Belgrade, Yugoslavia

[2] Univ Belgrade, Sch Med, YU-11000 Belgrade, Yugoslavia

[3] Columbia Univ, Dept Neurol, New York, NY 10032 USA

来源：

JOURNAL OF NEUROGENETICS | 2000年 / 14卷 / 04期

关键词：

mutant alleles; PCR analyses; trinucleotide repeats; expansion;

D O I：

10.3109/01677060009084502

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A number of human hereditary neuromuscular and neurodegenerative disorders are caused by the expansion of trinucleotide repeats within certain genes. Here we report the results of the analysis of five trinucleotide repeats containing genes (SCAI, MJD/SCA3, DRPLA, FRDA and MD) in HD patients and in a group of healthy controls. Allelic frequency distributions for SCAI and FRDA genes were shifted toward larger alleles in the group of unrelated HD patients, compared to healthy controls. This linkage disequilibrium suggests a possible existance of a common mechanism of trinucleotide repeats expansion in these loci.

引用

页码：257 / 263

页数：7

共 13 条

[1] Improved polymerase chain reaction conditions for quick diagnostics of Huntington disease [J].

Culjkovic, B ;

Ruzdijic, S ;

Rakic, L ;

Romac, S .

BRAIN RESEARCH PROTOCOLS, 1997, 2 (01) :44-46

[2]

CULJKOVIC B, IN PRESS AM J MED GE

[3]

Fisher R.A., 1992, Breakthroughs in Statistics, DOI DOI 10.1007/978-1-4612-4380-9_6

[4] Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23 [J].

Joo, EJ ;

Lee, JH ;

Cannon, TD ;

Price, RA .

PSYCHIATRIC GENETICS, 1999, 9 (01) :7-11

[5] Polyglutamine-containing proteins in schizophrenia [J].

Joober, R ;

Benkelfat, C ;

Jannatipour, M ;

Turecki, G ;

Lal, S ;

Mandel, JL ;

Bloom, D ;

Lalonde, P ;

Lopes-Cendes, I ;

Fortin, D ;

Rouleau, G .

MOLECULAR PSYCHIATRY, 1999, 4 (01) :53-57

[6]

KNAPP M, 1993, AM J HUM GENET, V52, P1085

[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] Laboratory guidelines for Huntington disease genetic testing [J].

Nance, MA ;

Seltzer, W ;

Ashizawa, T ;

Bennett, R ;

McIntosh, N ;

Myers, RH ;

Potter, T ;

Shea, DK .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) :1243-1247

[9] DYNAMIC MUTATIONS - A NEW CLASS OF MUTATIONS CAUSING HUMAN-DISEASE [J].

RICHARDS, RI ;

SUTHERLAND, GR .

CELL, 1992, 70 (05) :709-712

[10]

Sambrook J., 1989, Molecular Cloning: a Laboratory Manual, V2nd

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