Title: Study of the GLA gene mutation in Chinese patients with Fabry disease
Abstract: Objective To investigate the mutations in Chinese families with Fabry disease. Methods Genomic DNA was extracted from peripheral blood cells of three probands diagnosed as Fabry disease and some family members. Seventy genomic DNA samples extracted from 70 unrelated normal persons were used as control. By PCR and direct sequencing, all 7 exons and their neighboring intronic sequences of the GLA gene of the probands were analyzed. Results Three mutations were identified in 3 probands: (1) deletion of 1 bp at nucleotide 1142 in exon 7 (1142DelG), leading to premature termination of protein translation at cedon 390. (2) 902 G to A transition in exon 6 (codon 301), resulting in replacement of an arginine residue by glutamine (902GA, R301Q). (3) 484 T to C transition in exon 3 (codon 142), resulting in replacement of a cysteine residue by arginine (484TC, C142R). Mutation of GLA gene in 13 relatives of 3 probands was also screened and 6 eases with the same mutation as the relevant proband were found, including 5 heterozygotes and 1 hemizygote. Conclusion Three mutations including one novel mutation (1142DelG) are found in 3 Chinese families with Fabry disease by PCR-DNA sequencing.
Publication Year: 2005
Publication Date: 2005-01-01
Language: en
Type: article
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Cited By Count: 1
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