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[Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification].
Zhonghua Yi Xue Za Zhi. 2010 Mar 02; 90(8):535-9.ZY

Abstract

OBJECTIVE

To investigate the characteristics of APC gene germline mutation in Chinese patients with familial adenomatous polyposis (FAP).

METHODS

The genomic DNA was extracted from peripheral venous blood drawn from probands of 14 Chinese FAP families from Beijing, Hebei, Henan, Anhui, Inner Mongolia, Shanxi and Fujian. The APC gene was amplified by PCR and underwent direct sequencing. Large fragment deletion was detected by multiplex ligation-dependent probe amplification (MLPA) only in micromutation-negative samples found by sequencing.

RESULTS

APC gene micromutations were found in 9 probands and the micromutation detection rate was 64.3%, including 6 frameshift mutations, 2 splicing mutations and 1 nonsense mutation. Large fragment deletions of APC gene were detected in 2 probands (14.3%). The total mutation detection rate of micromutation and large fragment deletion was 78.6%. Four novel micromutations and 2 novel large fragment deletions were found, including c.2336-2337insT, c.3923-3929delAAGAAAA, c.532-2A > T, c.4179-4180GAdelinsT, large fragment deletions of exons 11 and 10A and large fragment deletion of exon 15 start.

CONCLUSIONS

In Chinese FAP patients, the germline mutation type of APC gene is variable; the majority is of frameshift mutation. The most common mutation site is exon 15. The mutation detection rate of APC gene can be boosted effectively by direct sequencing in combination with MLPA.

Authors+Show Affiliations

Department of Gastroenterology, General Hospital of Beijing Military Region, Beijing 100700, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

20367965

Citation

Jin, Peng, et al. "[Detection of APC Gene Germline Mutation in Chinese Familial Adenomatous Polyposis By Direct Sequencing in Combination With Multiplex Ligation-dependent Probe Amplification]." Zhonghua Yi Xue Za Zhi, vol. 90, no. 8, 2010, pp. 535-9.
Jin P, Cui WJ, Sheng JQ, et al. [Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification]. Zhonghua Yi Xue Za Zhi. 2010;90(8):535-9.
Jin, P., Cui, W. J., Sheng, J. Q., Fu, L., An, H. J., Li, A. Q., Zhang, M. Z., Han, Y., & Li, S. R. (2010). [Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification]. Zhonghua Yi Xue Za Zhi, 90(8), 535-9.
Jin P, et al. [Detection of APC Gene Germline Mutation in Chinese Familial Adenomatous Polyposis By Direct Sequencing in Combination With Multiplex Ligation-dependent Probe Amplification]. Zhonghua Yi Xue Za Zhi. 2010 Mar 2;90(8):535-9. PubMed PMID: 20367965.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification]. AU - Jin,Peng, AU - Cui,Wei-Jia, AU - Sheng,Jian-Qiu, AU - Fu,Lei, AU - An,He-Juan, AU - Li,Ai-Qin, AU - Zhang,Ming-Zhi, AU - Han,Ying, AU - Li,Shi-Rong, PY - 2010/4/7/entrez PY - 2010/4/7/pubmed PY - 2010/8/18/medline SP - 535 EP - 9 JF - Zhonghua yi xue za zhi JO - Zhonghua Yi Xue Za Zhi VL - 90 IS - 8 N2 - OBJECTIVE: To investigate the characteristics of APC gene germline mutation in Chinese patients with familial adenomatous polyposis (FAP). METHODS: The genomic DNA was extracted from peripheral venous blood drawn from probands of 14 Chinese FAP families from Beijing, Hebei, Henan, Anhui, Inner Mongolia, Shanxi and Fujian. The APC gene was amplified by PCR and underwent direct sequencing. Large fragment deletion was detected by multiplex ligation-dependent probe amplification (MLPA) only in micromutation-negative samples found by sequencing. RESULTS: APC gene micromutations were found in 9 probands and the micromutation detection rate was 64.3%, including 6 frameshift mutations, 2 splicing mutations and 1 nonsense mutation. Large fragment deletions of APC gene were detected in 2 probands (14.3%). The total mutation detection rate of micromutation and large fragment deletion was 78.6%. Four novel micromutations and 2 novel large fragment deletions were found, including c.2336-2337insT, c.3923-3929delAAGAAAA, c.532-2A > T, c.4179-4180GAdelinsT, large fragment deletions of exons 11 and 10A and large fragment deletion of exon 15 start. CONCLUSIONS: In Chinese FAP patients, the germline mutation type of APC gene is variable; the majority is of frameshift mutation. The most common mutation site is exon 15. The mutation detection rate of APC gene can be boosted effectively by direct sequencing in combination with MLPA. SN - 0376-2491 UR - https://www.unboundmedicine.com/medline/citation/20367965/[Detection_of_APC_gene_germline_mutation_in_Chinese_familial_adenomatous_polyposis_by_direct_sequencing_in_combination_with_multiplex_ligation_dependent_probe_amplification]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&issn=0376-2491&year=2010&vol=90&issue=8&fpage=535 DB - PRIME DP - Unbound Medicine ER -