中文摘要：

目的 探讨哈萨克族毛囊角化病一家系患者ATP2A2基因突变。方法 收集哈萨克族毛囊角化病49人家系的临床资料，采集44名家系成员和100例无亲缘关系健康人外周血，提取基因组DNA。采用PCR和DNA测序对该家系进行ATP2A2基因突变检测。结果 该家系毛囊角化病遗传方式属于常染色体显性遗传。家系中11例患者在ATP2A2基因12号外显子的剪切位点发生杂合突变（1288？1G→A），即第1288？1位碱基由G突变为A，而家系中33例正常成员及100例健康对照均未发现该突变。结论 该家系毛囊角化病发病可能是由ATP2A2基因12号外显子的剪切位点发生杂合突变（1288？1G→A）所致。

英文摘要：

Objective To analyze mutations in the ATP2A2 gene in a Kazakh family with Darier′s disease. Methods Clinical data were collected from 49 members from a family with Darier′s disease, and peripheral blood samples were obtained from 44 family members and 100 unrelated healthy people. Genomic DNA was extracted from these blood samples. PCR and DNA sequencing were performed to detect mutations in the ATP2A2 gene. Results Darier′s disease was inherited in an autosomal dominant manner in this family. A G→A heterozygous mutation（1288-1G→A）was identified at position 1288-1 at the splice site in exon 12 of the ATP2A2 gene in 11 patients in this family, but not in 33 healthy members or 100 healthy controls. Conclusion Darier′s disease in this family may be caused by the heterozygous mutation（1288-1G→A）at the splice site in exon 12 of the ATP2A2 gene.