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目的:报告国内首例由SNRPE基因突变导致的常染色体显性遗传性单纯性少毛症(少毛症11型)1例,并对其家系进行基因突变研究.方法:抽取患儿及其父母外周血,提取血液基因组DNA,同时取100例健康汉族人基因组DNA样品作对照,采用PCR方法扩增APCDD1、RPL21、SNRPE、HR基因所有外显子及其侧翼序列,并对产物进行测序分析.结果:患儿SNRPE基因存在剪切位点杂合突变,c.144+4A＞C.患儿父母及100例健康对照均未发现该杂合突变.结论:SNRPE基因的杂合突变c.144+4A＞C可能为导致该遗传性单纯性少毛症家系的原因.“,”Objective:To report the first case of hereditary hypotrichosis simplex caused by SNRPE(hypotrichosis 11) in China,and to study the mutation in the SNRPE gene in this family.Methods:Peripheral blood samples were obtained from a 5 years old boy with hereditary hypotrichosis simplex,his parents and 100 controls of Han nationality.Genomic DNA was extracted from these samples,and PCR was performed to amplify all exons of the APCDD1、PRL21、SNRPE、HR gene followed by DNA sequencing.Results:There was a heterozygous mutations(c.144+4A＞C) in the SNRPE gene in the patient.The parents and 100 healthy controls didn\'t have this mutation.Conclusion:The heterozygous mutation c.144+4A＞C in the SNRPE gene may be responsible for the clinical phenotype of hereditary hypotrichosis simplex in this family.