The Status of SCA1, MJD/SCA3, FRDA, DRPLA and MD Triplet Containing Genes in Patients with Huntington Disease and Healthy Controls

Abstract

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 (SCA1, MJD/SCA3, DRPLA, FRDA and MD) in HD patients and in a group of healthy controls. Allelic frequency distributions for SCA1 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.

Key Words:

• mutant alleles
• PCR analyses
• trinucleotide repeats
• expansion