title: Exclusion of familial dysautonomia from more than 60% of the genome.
abstract: Familial dysautonomia (FD) is a recessive neurological disorder that affects the development of the sensory and autonomic nervous system. The gene defect appears to be limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. One hundred and ninety-one marker loci representing all autosomes were tested for linkage with the FD genetic defect in 23 families. A combination of pairwise and multipoint analyses excluded the FD gene from at least 60% of the autosomal genome. The program EXCLUDE predicted regions of chromosomes 2, 4, 5q, 9, or 10 as the most promising locations for future analyses.
authors.affiliation: Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Boston 02129.
authors.forename: A
authors.initials: A
authors.lastname: Blumenfeld
authors.forename: F B
authors.initials: FB
authors.lastname: Axelrod
authors.forename: J A
authors.initials: JA
authors.lastname: Trofatter
authors.forename: C
authors.initials: C
authors.lastname: Maayan
authors.forename: D E
authors.initials: DE
authors.lastname: Lucente
authors.forename: S A
authors.initials: SA
authors.lastname: Slaugenhaupt
authors.forename: C B
authors.initials: CB
authors.lastname: Liebert
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D002905:Chromosomes, Human, 4-5; D002879:Chromosomes, Human, Pair 10; D002899:Chromosomes, Human, Pair 9; D004402:Dysautonomia, Familial / Q000235:genetics*; D005061:Europe, Eastern / Q000208:ethnology; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D007585:Jews; D016013:Likelihood Functions; D008126:Lod Score; D008297:Male; D009518:New York; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012984:Software
chemical_list: D005819:Genetic Markers