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目的检测一中国汉族人多发性家族性毛发上皮瘤的基因突变。方法采用聚合酶链反应扩增家系患者和健康个体CYLD基因的全部外显子,并进行DNA测序,以100例无亲缘关系的正常人作对照。结果该家系5名患者CYLD基因的17号外显子均检测到无义突变c.2272C>T,导致第758位精氨酸被终止密码子替代(R758X)。结论 CYLD基因的无义突变c.2272C>T可导致编码蛋白的结构和功能发生改变,是该家系患者的致病突变。
Objective To detect the genetic mutations of multiple familial hair epithelial tumors in Han Chinese. Methods All exons of CYLD gene in pedigrees and healthy individuals were amplified by polymerase chain reaction and sequenced. 100 unrelated healthy individuals were used as controls. Results No mutation c.2272C> T was detected in exon 17 of the CYLD gene in the five pedigrees of the pedigree, resulting in the replacement of arginine at position 758 with a stop codon (R758X). Conclusions The nonsense mutation c.2272C> T of CYLD gene can result in the change of the structure and function of the encoded protein and is a causative mutation in this family of patients.