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[Detection of adenomatous polyposis coli gene mutations in 31 familial adenomatous polyposis families by using denaturing high performance liquid chromatography].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Apr; 25(2):164-7.ZY

Abstract

OBJECTIVE

To analyze the adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis (FAP) in Chinese.

METHODS

DNA was extracted from blood samples taken from 31 FAP families, and all exons of the APC gene were amplified with touch-down PCR. APC gene mutations were screened by denaturing high performance liquid chromatography followed by sequencing if abnormal profile was detected.

RESULTS

Twelve categories of APC gene mutations were found in 15 FAP families (48.39%) including 4 novel mutations in coding region and 3 mutations in introns. The 4 novel mutations in coding region were frameshift mutations and located in codons 255, 677, 1192 and 1403 respectively. Most mutations were clustered in exon 15 of APC gene leading to frameshift and accounted for 86.67%. Others were nonsense mutations (13.33%).

CONCLUSION

The mutation rate of the APC gene in this group of Chinese FAP families was about 48.39%, and 4 novel mutations were detected. Frameshift mutation was the major mutation type in Chinese FAP and mainly located in exon 15.

Authors+Show Affiliations

Cai SR
Cancer Institute, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009 P. R. China.
Zhang SZ
No affiliation info available
Zheng S
No affiliation info available

MeSH

Adenomatous Polyposis ColiChromatography, High Pressure LiquidExonsFemaleFrameshift MutationGenes, APCHumansIntronsMaleMutationPolymerase Chain Reaction

Pub Type(s)

English Abstract
Journal Article

Language

chi

PubMed ID

18393237

Citation

Cai, Shan-rong, et al. "[Detection of Adenomatous Polyposis Coli Gene Mutations in 31 Familial Adenomatous Polyposis Families By Using Denaturing High Performance Liquid Chromatography]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 25, no. 2, 2008, pp. 164-7.
Cai SR, Zhang SZ, Zheng S. [Detection of adenomatous polyposis coli gene mutations in 31 familial adenomatous polyposis families by using denaturing high performance liquid chromatography]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25(2):164-7.
Cai, S. R., Zhang, S. Z., & Zheng, S. (2008). [Detection of adenomatous polyposis coli gene mutations in 31 familial adenomatous polyposis families by using denaturing high performance liquid chromatography]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 25(2), 164-7.
Cai SR, Zhang SZ, Zheng S. [Detection of Adenomatous Polyposis Coli Gene Mutations in 31 Familial Adenomatous Polyposis Families By Using Denaturing High Performance Liquid Chromatography]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25(2):164-7. PubMed PMID: 18393237.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Detection of adenomatous polyposis coli gene mutations in 31 familial adenomatous polyposis families by using denaturing high performance liquid chromatography]. AU - Cai,Shan-rong, AU - Zhang,Su-zhan, AU - Zheng,Shu, PY - 2008/4/9/pubmed PY - 2009/3/20/medline PY - 2008/4/9/entrez SP - 164 EP - 7 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 25 IS - 2 N2 - OBJECTIVE: To analyze the adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis (FAP) in Chinese. METHODS: DNA was extracted from blood samples taken from 31 FAP families, and all exons of the APC gene were amplified with touch-down PCR. APC gene mutations were screened by denaturing high performance liquid chromatography followed by sequencing if abnormal profile was detected. RESULTS: Twelve categories of APC gene mutations were found in 15 FAP families (48.39%) including 4 novel mutations in coding region and 3 mutations in introns. The 4 novel mutations in coding region were frameshift mutations and located in codons 255, 677, 1192 and 1403 respectively. Most mutations were clustered in exon 15 of APC gene leading to frameshift and accounted for 86.67%. Others were nonsense mutations (13.33%). CONCLUSION: The mutation rate of the APC gene in this group of Chinese FAP families was about 48.39%, and 4 novel mutations were detected. Frameshift mutation was the major mutation type in Chinese FAP and mainly located in exon 15. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/18393237/[Detection_of_adenomatous_polyposis_coli_gene_mutations_in_31_familial_adenomatous_polyposis_families_by_using_denaturing_high_performance_liquid_chromatography]_ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -