title: A genetic linkage map of the chromosome 4 short arm.
abstract: We have generated an 18-interval contiguous genetic linkage map of human chromosome 4 spanning the entire short arm and proximal long arm. Fifty-seven polymorphisms, representing 42 loci, were analyzed in the Venezuelan reference pedigree. The markers included seven genes (ADRA2C, ALB, GABRB1, GC, HOX7, IDUA, QDPR), one pseudogene (RAF1P1), and 34 anonymous DNA loci. Four loci were represented by microsatellite polymorphisms and one (GC) was expressed as a protein polymorphism. The remainder were genotyped based on restriction fragment length polymorphism. The sex-averaged map covered 123 cM. Significant differences in sex-specific rates of recombination were observed only in the pericentromeric and proximal long arm regions, but these contributed to different overall map lengths of 115 cM in males and 138 cM in females. This map provides 19 reference points along chromosome 4 that will be particularly useful in anchoring and seeding physical mapping studies and in aiding in disease studies.
authors.affiliation: Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02114.
authors.forename: P A
authors.initials: PA
authors.lastname: Locke
authors.forename: M E
authors.initials: ME
authors.lastname: MacDonald
authors.forename: J
authors.initials: J
authors.lastname: Srinidhi
authors.forename: T C
authors.initials: TC
authors.lastname: Gilliam
authors.forename: R E
authors.initials: RE
authors.lastname: Tanzi
authors.forename: P M
authors.initials: PM
authors.lastname: Conneally
authors.forename: N S
authors.initials: NS
authors.lastname: Wexler
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
mesh_terms: D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers