Analysis of APC gene mutation in a familial adenomatous polyposis pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 757-760, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-291687
ABSTRACT
<p><b>OBJECTIVE</b>To analyze mutation of adenomatous polyposis coli (APC) gene in a family affected with familial adenomatous polyposis.</p><p><b>METHODS</b>The 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.</p><p><b>RESULTS</b>A 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.</p><p><b>CONCLUSION</b>The 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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
Colorectal Neoplasms
/
Point Mutation
/
Adenomatous Polyposis Coli
/
Mutation, Missense
/
Adenomatous Polyposis Coli Protein
/
Diagnosis
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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