title: Pre-symptomatic molecular diagnosis of X-linked adrenoleukodystrophy in Chinese families.
abstract: OBJECTIVE
  To identify asymptomatic males with X-linked adrenoleukodystrophy (X-ALD) from Chinese pedigrees by molecular genetic testing.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood of the asymptomatic individuals from X-ALD families, and fragments spanning the proband's mutation were amplified. PCR-RFLP, direct sequencing and denaturing high performance liquid chromatography (DHPLC) were used to detect the PCR products.
  
  
  RESULTS
  Four asymptomatic male subjects from three Chinese X-ALD pedigrees were found to carry the same mutation with the probands. In Pedigree 1, by restriction analysis with endonuclease Eco47 I, the digestion pattern of the proband's elder brother (Subject 1) was same with the proband, which indicated that both carried the same mutation. In Pedigree 2 and Pedigree 3, the PCR products were analysed by DHPLC, and the patterns of elution peaks of the Subjects 2-4 and the heterozygous mothers were similar, which indicated the presence of sequence alterations in the ABCD1 gene. DNA sequencing of the corresponding PCR products confirmed the mutations.
  
  
  CONCLUSIONS
  Molecular testing was an effective way to determine the genotype of family members of X-ALD before they develop any symptoms. Early and preferable pre-symptomatic identification of hemizygotes is of great benefit to affected individuals and their families.
authors: Research Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Clinical College of Fujian Medical University, Fuzhou, China.
authors: Zhihong
authors: Z
authors: Wang
authors: Longfeng
authors: L
authors: Ke
authors: Haihua
authors: H
authors: Xie
authors: Aizhen
authors: A
authors: Yan
authors: Lianghu
authors: L
authors: Huang
authors: Fenghua
authors: F
authors: Lan
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D042241:Early Diagnosis; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters