| Autor: |
Lijuan, Wang, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ming, Gao, Ranran, Kang, Hongqiang, Xie, Xianda, Wei, Yuping, Niu, Xiaowei, Liu, Yuan, Gao |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(4) |
| ISSN: |
1003-9406 |
| Popis: |
To detect mutations of the XPC (XPC complex subunit, DNA damage recognition and repair factor) gene in a family affected with xeroderma pigmentosum group C (XP-C).The patient was subjected to next-generation sequencing and Sanger sequencing. Suspected mutations were validated by Sanger sequencing. Effect of splicing mutation was confirmed by reverse transcription-PCR (RT-PCR).Compound heterozygous mutations of c.2098G to T and c.2034-7_2040del were found in the XPC gene in the proband. Among these, c.2098G to T (p.G700X) is a nonsense mutation resulting in a truncated XPC protein. C.2034-7_2040del involves the -1 position, which may alter the splice donor site of the intron 11 of XPC and result in a truncated XPC protein with loss of amino acids from 940 to 679 positions. The two mutations were not detected among 100 unrelated healthy controls.Mutations of c.2098 G to T and c.2034-7_2040del of the XPC gene may lead to abnormal XPC expression and reduction or elimination of normal XPC functions, which may underlie the disease in this family. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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