Analysis Of ATP2A2 Gene Mutation And Clinical Characteristics Of A Kazakh Family Of Darier’s Disease

Objective:To analyze the clinical characteristics and genetic characteristics of Kazak family of 49 follicular keratosis and to study the relationship between the genetic pattern and the disease of ATP2A2 gene in pedigrees.Methods:(1)The clinical data of 49 Kazak people with keratosis were sorted and collected the pedigree with keratosis follicularis;(2)Extracting 11 patients peripheral blood samples in a family DNA,and extract the pedigrees of 33 healthy subjects and 100 normal cases were unrelated DNA as control;(3)A total of 21 exons and the ATP2A2 gene exon and intron junctions were amplified by polymerase chain reaction(PCR),finally using direct sequencing method to detect keratosisfollicularis patients and patients with normal control DNA,and mutation screening.Results:(1)The inheritance pattern of this family is autosomal dominant inheritance.(2)11 patients in the pedigree in ATP2A2 exon 12 splice site sub heterozygous mutation(1288-1G,A),the 1288-1 base by guanine into adenine,and the family in 33 cases and 100 cases of normal person not found the mutation.Conclusion:This gene may be caused by heterozygous mutation(1288-1G → A)in the splice site of exon 12 of ATP2A2 gene,which may be the main cause of the clinical pathological changes of this family.The gene mutation may also be associated with Clinical severity.The study further enriched the genotype-phenotype database of keratinizing skin genetics,and provided the theoretical basis for pathogenesis,prenatal genetic counseling,gene diagnosis and gene therapy of Kazak follicular keratosis.