Abstract
Objective To analyze the A TP7A gene mutations in 2 related Chinese patients with Menkes disease (MD) and other members of the family and their hereditary features. Methods Two patients were clinically diagnosed as having MD. All 23 exons and exon-intron boundaries of ATP7A gene were polymerase chain reaction (PCR)-amplified and directly sequenced for genomic DNA extracted from the peripheral blood of both 2 patients and other members of the family; healthy controls were employed too. The mutations were proved by fluorescence quantitative PCR. Results Gross deletions from exon 2-12 were found in these 2 patients,respectively; their mothers,grandmother and aunt with normal phenotype carried those heterozygous mutations in the same site of A TP7A gene.Conclusions The 2 patients with MD are identified by gene and gross deletions from exon 2-12 are reported. Key words: Menkes disease; ATP7A gene; Mutation
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