关键词: 突变

Abstract:

Objective To detect the mutations in ATP2C1 gene in 3 Chinese Hailey-Hailey disease （HHD） families and 1 sporadic HHD patient. Methods Three Chinese HHD families and 1 sporadic HHD patient were recruited into this study with informed consent. Blood samples were taken from the patients with HHD, unaffected individuals in the HHD families and 100 unrelated normal human controls. Genomic DNA was extracted from these blood samples. All the exons and exon-intron boundaries of the ATP2C1 gene were amplified by PCR followed by direct sequencing via dye-termination chemistry. Results Three novel missense mutations in ATP2C1 gene were identified, including a 2048 G→A mutation in exon 20 causing the substitution of arginine by lysine at position 619 in the patients from HHD family 1, 853A→C mutation in exon 8 causing the substitution of threonine by proline at position 221 in the patients from family 2, and 2323T→C mutation in exon 23 causing the substitution of tyrosine by histidine at position 711. None of these mutations were found in patients from the HHD family 3, unaffected individuals from the HHD family 1 and 2, or the unrelated normal human controls. Conclusion Three novel missense mutations are identified in the ATP2C1 gene of patients with HHD.

Key words: mutation