title: [Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris].
abstract: OBJECTIVE
  To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).
  
  
  METHODS
  Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.
  
  
  RESULTS
  A maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.
  
  
  CONCLUSIONS
  The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.
authors.affiliation: National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China.
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Zhi-guo
authors.initials: ZG
authors.lastname: Xie
authors.forename: Ling-qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: De-sheng
authors.initials: DS
authors.lastname: Liang
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Zhu
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Zhi-ga
authors.initials: ZG
authors.lastname: Long
authors.forename: He-ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Jia-hui
authors.initials: JH
authors.lastname: Xia
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
mesh_terms: D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics*; D008297:Male; D010375:Pedigree