title: [Analysis of chromosome regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q13.3 in a Chinese family with congenital preauricular fistula].
abstract: OBJECTIVE
  To identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.
  
  
  METHODS
  Conventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.
  
  
  RESULTS
  None of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.
  
  
  CONCLUSIONS
  CPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.
authors.affiliation: Department of Genetics and Molecular Biology, Xi'an Jiaotong University College of Medicine, Xi'an, Shaanxi 710061, P. R. China. majie@mail.xjtu.edu.cn; zhangruity@aliyun.com.
authors.forename: Jianwen
authors.initials: J
authors.lastname: Song
authors.forename: Yi
authors.initials: Y
authors.lastname: Wu
authors.forename: Fayi
authors.initials: F
authors.lastname: Nie
authors.forename: Biyuan
authors.initials: B
authors.lastname: Wang
authors.forename: Yue
authors.initials: Y
authors.lastname: Li
authors.forename: Anli
authors.initials: A
authors.lastname: Shu
authors.forename: Yanling
authors.initials: Y
authors.lastname: Ma
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.forename: John R
authors.initials: JR
authors.lastname: Kelsoe
authors.forename: Jie
authors.initials: J
authors.lastname: Ma
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree