[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].
OBJECTIVE
To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).


METHODS
Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.


RESULTS
Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.


CONCLUSIONS
All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
Li
Xiao-li
XL
Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Shaanxi, 710004, People's Republic of China.
Peng
Zhen-hui
ZH
Xiao
Sheng-xiang
SX
Liu
Yan
Y
Pan
Min
M
Zhou
Shao-na
SN
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D016022:Case-Control Studies; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D016415:Sequence Alignment; D017384:Sequence Deletion
D018389:Codon, Nonsense; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases