Title: Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene (ABCD1) in Chinese patients
Abstract: Objective To detect the mutations in exon 6 of ABCD1 gene encoding adrenoleukodystrophy protein(ALDP) in Chinese X -linked adrenoleukodystrophy (ALD,MIM 300100) patie nts. Methods Genomic DNA from 14 unrelated patients and two pat ients' parents with X-linked ALD was extracted using standard procedures from t he peripheral blood leukocytes. Polymerase chain reaction (PCR) and DNA direct s equencing were employed to analyze exon 6 of ABCD1 gene. Results Three mutations in exon 6 were identified in 3 of 14 pa tients. One mutation wa s deleted 1 base pair at splice acceptor-site (1489-6 del C). It was not clear what the effect of this mutation is on the ALD protein, maybe induce splicing er ror. One missense mutation: T1559A(L520Q).These two patients' mothers were heterozygous. The third patient had a mutation: G1548A (L516 L), which is a known polymorphism. It was not a disease causing mu t ation, so there should be another mutation in this patient. Conclusion For the first time, mutations in ABCD1 are identifi ed in Chinese ALD pa tients in the mainland of China. No major gene deletion or rearrangement is det ected in exon 6. Despite many mutations having been identified in patients with these clinical phenotypes, the genotype-phenotype correlations have not been cl arified, suggesting that other genetic or environmental factors may also be invo lved in determining phenotypic expression in ALD. Two carriers are also confirme d.
Publication Year: 2003
Publication Date: 2003-01-01
Language: en
Type: article
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