title: Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor.
abstract: An ancestral haplotype on chromosome 2p24.1 described in an American sample with familial essential tremor (ET) was analyzed in a different ethnic sample from Singapore. Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274-kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls older than age 65 (n = 49). The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100-kb interval between the loci etm1231 and APOB.
authors.affiliation: Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, NY 12561, USA. jhiggins@fpinstitute.org
authors.forename: J J
authors.initials: JJ
authors.lastname: Higgins
authors.forename: R Q
authors.initials: RQ
authors.lastname: Lombardi
authors.forename: E K
authors.initials: EK
authors.lastname: Tan
authors.forename: J
authors.initials: J
authors.lastname: Jankovic
authors.forename: J
authors.initials: J
authors.lastname: Pucilowska
authors.forename: J P
authors.initials: JP
authors.lastname: Rooney
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001055:Apolipoproteins B / Q000235:genetics*; D016022:Case-Control Studies; D002889:Chromosomes, Human, Pair 2; D020329:Essential Tremor / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D012846:Singapore / Q000453:epidemiology
chemical_list: D001055:Apolipoproteins B