Title: Mutational analysis of a Chinese patient with X-linked adrenoleukodystrophy
Abstract: Objective To identify the mutational genotype of a Chinese patient with X linked adrenoleukodystrophy(ALD). Methods Four fragments covering the entire coding sequence of the ALD gene of the patient and a control subject were amplified by RT PCR. The PCR products were directly sequenced by chain termination method. The result of sequencing was confirmed by restriction enzyme digestion of PCR products from genomic DNA. Results A novel missense mutation,CGC→CTC, was found at codon 280 of ALD gene from the patient, resulting in the replacement of arginine by leucine. This mutation abolished an Hin 6I cut site in the gene. Two heterozygotes were identified in the family members of the patient. Conclusion A new mutation, R280L mutation, was identified in the ALD gene of a Chinese patitent with ALD.
Publication Year: 2002
Publication Date: 2002-01-01
Language: en
Type: article
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