Jin S, Cui K, Sun ZQ, Shen YY, Li P, Wang ZD, Li FF, Gong KN, Li S. Screening analysis of candidate gene mutations in a kindred with polycystic liver disease. World J Gastroenterol 2015; 21(8): 2343-2351 [PMID: 25741140 DOI: 10.3748/wjg.v21.i8.2343]
Corresponding Author of This Article
Sheng Li, MD, Department of Hepatobiliary Surgery, Shandong Cancer Hospital, 440 Jiyan Road, Jinan 250117, Shandong Province, China. drlisheng@sohu.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Basic Study
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastroenterol. Feb 28, 2015; 21(8): 2343-2351 Published online Feb 28, 2015. doi: 10.3748/wjg.v21.i8.2343
Screening analysis of candidate gene mutations in a kindred with polycystic liver disease
Song Jin, Kai Cui, Zi-Qiang Sun, Yang-Yang Shen, Pang Li, Zhen-Dan Wang, Fei-Fei Li, Ke-Nan Gong, Sheng Li
Song Jin, Zi-Qiang Sun, Department of Hepatobiliary and Vascular Surgery, Affiliated Hospital of Jining Medical College, Jining 272029, Shandong Province, China
Kai Cui, Yang-Yang Shen, Pang Li, Zhen-Dan Wang, Sheng Li, Department of Hepatobiliary Surgery, Shandong Cancer Hospital, Jinan 250117, Shandong Province, China
Sheng Li, Shandong Provincial Collaborative Innovation Center for Neurodegenerative Disorders, Qingdao University, Qingdao 266071, China
Fei-Fei Li, Ke-Nan Gong, Laboratory of Disease Genomics and Individualized Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
Author contributions: Li S designed the study; Jin S, Shen YY and Wang ZD acquired the data; Cui K, Li FF and Gong KN performed data analysis and interpretation; Jin S and Cui K drafted the manuscript; Cui K and Sun ZQ revised the manuscript; Li FF and Li P gave advice on statistical analysis.
Supported by Grants from Science and Technology Projects of the Medicine and Health of Shandong Province, No. 2013WS0362; the Natural Science Foundation of Shandong Province of China, No. 30810403081; and the Department of Science and Technology of Shandong Province of China, No. 2011GGC03085.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Sheng Li, MD, Department of Hepatobiliary Surgery, Shandong Cancer Hospital, 440 Jiyan Road, Jinan 250117, Shandong Province, China. drlisheng@sohu.com
Telephone: +86-531-87984079 Fax: +86-531-87984079
Received: July 13, 2014 Peer-review started: July 14, 2014 First decision: August 15, 2014 Revised: September 3, 2014 Accepted: November 19, 2014 Article in press: November 19, 2014 Published online: February 28, 2015 Processing time: 230 Days and 0.6 Hours
Core Tip
Core tip: This study explored the mutable sites in the PKD1 gene and found the potential mutable sites by detecting mutations of the candidate gene in a kindred with polycystic liver disease (PCLD). We analysed five blood samples obtained from the kindred by using long-range polymerase chain reaction and direct sequencing with different primers. We found synonymous mutations in exons 5, 11, 15, and 35 of the PKD1 gene. Only the mutation in exon 15 was not in the dbSNP library, and it was a heterozygous CT in the proband and was C in the reference sequence. This mutation was located in the first codon and resulted in a termination codon. This nonsense mutation existed also in the third individual, so the mutable site was a pathogenic mutation.
