title: Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families.
abstract: BACKGROUND
  Genome and chromosome screens reported DNA markers on chromosome 14 linked to allergic asthma or intermediate phenotypes in several populations.
  
  
  OBJECTIVE
  We sought to perform a linkage study on chromosome 14 and a further association study on candidate genes mapped in the region found to be linked to allergic asthma or intermediate phenotypes.
  
  
  METHODS
  The study consisted of a sample of 189 families (847 genotyped individuals) from a restricted geographic area in northeastern Italy. The subjects were characterized for the following phenotypes: allergic asthma, total serum IgE levels, skin prick test responses, and bronchial hyperresponsiveness (BHR) to methacholine. Genotyping was done with 14 DNA markers and 4 polymorphisms in the genes encoding alpha(1)-anti-trypsin and alpha(1)-antichymotrypsin (ACT).
  
  
  RESULTS
  Multipoint analysis indicated a potential linkage of BHR with marker D14S617 (nonparametric linkage z score = 2.32, P =.01). Transmission disequilibrium of Thr -15Ala in the gene encoding ACT was observed with all the phenotypes investigated: allergic asthma, BHR, total IgE levels, or skin prick test responses (P =.041,.02,.0053, or.026, respectively).
  
  
  CONCLUSIONS
  Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.
authors: Department of Mother and Child, Biology and Genetics, University of Verona, Strada la Grazie 8, 37134 Verona, Italy.
authors: G
authors: G
authors: Malerba
authors: C
authors: C
authors: Patuzzo
authors: E
authors: E
authors: Trabetti
authors: M C
authors: MC
authors: Lauciello
authors: R
authors: R
authors: Galavotti
authors: L
authors: L
authors: Pescollderungg
authors: M B
authors: MB
authors: Whalen
authors: G
authors: G
authors: Zanoni
authors: L C
authors: LC
authors: Martinati
authors: A L
authors: AL
authors: Boner
authors: P F
authors: PF
authors: Pignatti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001249:Asthma / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D008040:Genetic Linkage; D006801:Humans; D006967:Hypersensitivity / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000514:alpha 1-Antichymotrypsin; D000515:alpha 1-Antitrypsin