A型着色性干皮病1例XPAC基因的复合无义突变

Compound Nonsense Mutations of XPAC Gene in One Patient with Xeroderma Pigmentosum Group A

目的检测1例A型着色性干皮病患者及其父母的XPAC基因的突变情况。方法收集患者及其父母资料,提取外周血DNA,采用PCR扩增XPAC基因编码区的全部外显子,DNA直接测序,明确突变位点,并以50个无关正常人作对照。结果患者XPAC基因分别于第631及第682位发生C→T突变,使第211位及第228位氨基酸均由精氨酸变成终止密码子(R211X,R228X)突变,两突变分别来自其父母。50例健康对照者不存在此两种突变。结论R211X及R228X复合无义突变为引起该患者的A型着色性干皮病的病因。

Objective To determine XPAC gene mutations in one Chinese patient with xeroderma pigmentosum group A. Methods Six coding exons of XPAC gene were amplified by PCR and DNA sequencing was followed. Results C631T and C682T compound heterozygous nonsense mutations which caused R211X and R228X in the XPAC gene were found in the patient with xeroderma pigrnentosum group A. His parents were heterozygous for these two mutations, respectively. These two mutations were not found in 50 unrelated normal control individuals. Conclusion R211X and R228X compound mutations of XPAC gene are the causative mutation in this patient of the xeroderma pigmentosum group A.