A variant in the HS1-BP3 gene is associated with familial essential tremor.

ABSTRACT:

Background

Genetic linkage studies have identified two susceptibility loci for essential tremor (ET) on chromosomes 3q13 (ETM1) and 2p24.1 (ETM2). Linkage disequilibrium studies in separate population samples from the United States and Singapore suggest an association between ET and loci at ETM2.

Methods

Fine mapping studies were conducted on multiplex and singleton US families linked to ETM2 using newly detected loci within the candidate interval to establish the minimal critical region (MCR) harboring an ET gene. The genes and transcripts within this interval were systematically analyzed by single-strand conformational polymorphism analysis and DNA sequencing.

Results

A 464-kb region between loci D2S2150 and etm1231 was defined as the MCR. The coding regions and fla

SUBMITTER: Higgins JJ 

PROVIDER: S-EPMC1201396 | biostudies-literature | 2005 Feb

REPOSITORIES: biostudies-literature