Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae · 2007
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].
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Zhang Zheng-Zhong, Li Wei, Zhou Fu-Sheng, Gao Min, Xiao Feng-Li, Fang Qiao-Yun, Shen Yu-Jun, Du Wen-Hui, Sui Wei-Chi, Yang Sen, Zhang Xue-Jun
Аннотация
OBJECTIVE: To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.
METHOD: All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.
RESULTS: We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.
CONCLUSION: The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.
METHOD: All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.
RESULTS: We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.
CONCLUSION: The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.