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
收藏
页码：257 / 263
页数：7
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