| Title | Identification of new susceptible genes associated with familial carotid body tumor of Chinese pedigree by high-throughput genome sequencing |
| Authors | Li, Bowen Wang, Yufan Wang, Feng Wang, Panpan Hu, Jie Zhang, Wei Yang, Hongyu |
| Affiliation | Peking Univ, Shenzhen Hosp, Dept Oral & Maxillofacial Surg, Shenzhen 518001, Guangdong, Peoples R China. Anhui Med Univ, Grad Sch, Hefei, Anhui, Peoples R China. Shenzhen Peking Univ Hong Kong Univ Sci & Technol, Med Ctr, Biomed Res Inst, Shenzhen 518036, Guangdong, Peoples R China. Peking Univ, Shenzhen Hosp, Dept Oral & Maxillofacial Surg, Shenzhen 518001, Guangdong, Peoples R China. Zhang, W (reprint author), Shenzhen Peking Univ Hong Kong Univ Sci & Technol, Med Ctr, Biomed Res Inst, Shenzhen 518036, Guangdong, Peoples R China. |
| Keywords | Carotid body tumor whole exome sequencing gene mutation founder effect NECK PARAGANGLIOMA PATIENTS GERMLINE MUTATIONS SDHD GENE HEAD PHEOCHROMOCYTOMA PREVALENCE CANCER |
| Issue Date | 2017 |
| Publisher | INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY |
| Citation | INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY.2017,10(2),2012-+. |
| Abstract | Hereditary carotid body tumoris a rare disease which is related to the gene mutation. A majority of tumors are inherited in an autosomal dominant pattern. In addition, high-throughput DNA-sequencing technologies are widely applied to detect disease-associated genes. The Chinese pedigree is examined in this study by using high-throughput genome sequencing and gene mutations were confirmed by peripheral blood of the patients. We finally discovered new 57 genes with SNP and 9 genes with InDel in all patients. Based on the hazardous filter of the results, we found the M1I mutation of the exon1 in the succinate dehydrogenase D (SDHD) gene in all subjects. The new susceptible genesmight regulate the development of carotid body tumor and the result suggests SDHD M1I mutation might play a founder mutation in the Chinese HNPGL patients. |
| URI | http://hdl.handle.net/20.500.11897/476280 |
| ISSN | 1936-2625 |
| Indexed | SCI(E) |
| Appears in Collections: | 深圳医院 化学生物学与生物技术学院 |
