Identification of a novel mutation in the ALD gene of a Chinese patient with adrenoleukodystrophy

    LAN Fengª²Hua1, YANG Boª²Sheng2, LU Aiª²Wei3, HUANG Liangª²Hu1, ZHU Zhongª²Yong1

    1Chinese PLA Center for Laboratory Medicine, 2Department of Neurology, Fuzhou General Hospital, Nanjing Military Command, Fuzhou 350025, China, 3Department of Laboratory Medicine, Sanming First Municipal Hospital, Sanming 365000, China

    ¡¾Abstract¡¿ AIM: To identify the mutational genotype in a Chinese family with adrenoleukodystrophy (ALD). METHODS: Total RNA was isolated from the peripheral blood of the patient and ALD mRNA was amplified by long RTª²PCR. The PCR products were subjected to direct sequencing with ABI¬ðs BigDye kit on type 377 sequencer. A 330 bp fragment spanning the mutation was amplified from the genomic DNA of the patient and his family members and digested with the restriction enzyme BspLI. RESULTS: C was changed to T at base 1523, replacing the proline at codon 508 with leucine. The mutation was inherited from his mother, which was heterozygous for the mutation. His father and sister were free from this mutation. CONCLUSION: A novel mutation, the P508L mutation, is found in the ALD gene of a Chinese patient with ALD. ......