title: [Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].
abstract: OBJECTIVE
  To elucidate the molecular mechanism of X-linked adrenoleukodystrophy(ALD) in Chinese.
  
  
  METHODS
  Polymerase chain reaction in exon 1, exon 5 and their flanking sequences and direct DNA sequencing of ALD gene were performed in four patients, their mothers and twenty normal individuals as controls.
  
  
  RESULTS
  A splice mutation was identified in the interface of exon 5 and intron 5 (1875 G-->A). This splice mutation in 5' end of intron 5 might lead to abnormal splice in exon 5 and exon 6 and bring about unstable and abnormal ALD protein; the lignoceryl CoA ligase could not transport very long chain fatty acids (VLCFA) into peroxisome and could not function normally; consequently, defective beta-oxidation of VLCFA in peroxisome could result in an accumulation of VLCFAS in the central nervous system, adrenal gland and blood.
  
  
  CONCLUSIONS
  The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy.
authors.affiliation: Department of Pediatrics, the First Hospital Affiliated to Fujian Medical University, Fuzhou, Fujina, PR China.
authors.forename: Xiao-rong
authors.initials: XR
authors.lastname: Shi
authors.forename: Yu-cai
authors.initials: YC
authors.lastname: Chen
authors.forename: Wen-huang
authors.initials: WH
authors.lastname: Xie
authors.forename: Mei-fang
authors.initials: MF
authors.lastname: Huang
authors.forename: Xiao-jun
authors.initials: XJ
authors.lastname: Hou
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D004247:DNA