Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5.
- Author:
Xiao-rong SHI
1
;
Yu-cai CHEN
;
Wen-huang XIE
;
Mei-fang HUANG
;
Xiao-jun HOU
;
Ning WANG
Author Information
- Publication Type:Case Reports
- MeSH: ATP Binding Cassette Transporter, Sub-Family D, Member 1; ATP-Binding Cassette Transporters; genetics; Adrenoleukodystrophy; genetics; pathology; Alternative Splicing; genetics; Base Sequence; Child; Child, Preschool; DNA; chemistry; genetics; DNA Mutational Analysis; Exons; genetics; Family Health; Female; Humans; Introns; genetics; Male; Molecular Sequence Data; Mutation
- From: Chinese Journal of Medical Genetics 2003;20(1):43-45
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo elucidate the molecular mechanism of X-linked adrenoleukodystrophy(ALD) in Chinese.
METHODSPolymerase 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.
RESULTSA 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.
CONCLUSIONThe 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.
