Analysis of APC gene mutation in a familial adenomatous polyposis pedigree.
- VernacularTitle:一个家族性腺瘤性息肉病家系的APC基因突变分析
- Author:
Min ZHANG
1
;
Zhihong WANG
;
Yanhong LIN
;
Yuxiang LIN
;
Xiaoli LI
;
Aizhen YAN
;
Xianguo FU
;
Fuchun ZHONG
;
Fenghua LAN
Author Information
- Publication Type:Journal Article
- MeSH: Adenomatous Polyposis Coli; diagnosis; genetics; Adenomatous Polyposis Coli Protein; genetics; Adult; Base Sequence; Child, Preschool; Colorectal Neoplasms; diagnosis; genetics; Female; Humans; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Point Mutation; Young Adult
- From: Chinese Journal of Medical Genetics 2014;31(6):757-760
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze mutation of adenomatous polyposis coli (APC) gene in a family affected with familial adenomatous polyposis.
METHODSThe diagnosis was made based on clinical manifestations, family history, presence of numerous polyps in the colon as well as pathological examination. Peripheral blood samples were collected, and genomic DNA was extracted. Potential mutation of the APC gene was detected by polymerase chain reaction (PCR) and DNA sequencing. After finding the mutation in the proband, the same mutation was screened among other family members. The mutation was also confirmed with PCR-restriction fragment length polymorphism (RFLP), with which 100 unrelated healthy controls were examined.
RESULTSA novel heterozygous nonsense mutation c.2891T>G (L964X) of the APC gene was identified in this pedigree. The mutation has led to premature termination of translation. The same mutation was not detected among the 100 healthy controls.
CONCLUSIONThe c.2891T>G (L964X) of the APC gene probably underlies the familial adenomatous polyposis in this pedigree. The combined DNA sequencing and PCR-RFLP method is efficient and accurate for the diagnosis.
