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[Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5]
Xiao-rong Shi1, Yu-cai Chen, Wen-huang Xie
1Department of Pediatrics, the First Hospital Affiliated to Fujian Medical University, Fuzhou, Fujina, PR China.
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.
Conclusion:
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.