中文摘要：

目的：研究一中国汉族人多发性脂囊瘤（SM）家系KRT17基因的突变情况，了解SM和KRT17基因异常的关系。方法：采用聚合酶链反应（PCR）扩增该家系成员的KRT17基因第1号外显子，并对PCR产物进行序列分析。结果：该家系中有5例患者KRT17基因的1号外显子第281位碱基鸟嘌呤（G）被腺嘌呤（A）所替代，导致第94位的精氨酸被组氨酸取代（R94H），而该家系中有2名正常人及与该家系无关的100名正常人中未发现此突变。结论：首次报道在中国汉族人SM家系中发现KRT17基因的错义突变c．281G〉A（p．R94H），该突变为本研究中所有患者的致病突变。

英文摘要：

Objective： To detect the mutation of KRT17 gene in a Chinese family with steatocystoma multiplex （SM） and to analyze the relationship between SM and KRT17 gene mutation. Methods： The exon 1 of the KRT17 gene was amplified by polymerase chain reaction （PCR） and subsequently detected by direct sequencing analysis. Results： Five patients with SM in the family showed a point mutation at nucleotide 281 （G→A） compared with that of the normal controls, resulting in the substitution of histidine for arginine at codon 94. The mutation was not found in 2 normal individuals of the family and 100 unrelated controls. Conclusion： The c.281G〉 A mutation of KRT17 gene is firstly reported in the Chinese pedigree with SM and seems to be the pathogenic mutation in all affected individuals.