Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 43-45, 2003.
Article
in Chinese
| WPRIM
| ID: wpr-248504
ABSTRACT
<p><b>OBJECTIVE</b>To elucidate the molecular mechanism of X-linked adrenoleukodystrophy(ALD) in Chinese.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
DNA
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Introns
/
Chemistry
/
Exons
/
Family Health
/
Alternative Splicing
Type of study:
Prognostic study
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2003
Type:
Article
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