[Detection of adenomatous polyposis coli gene mutations in 31 familial adenomatous polyposis families by using denaturing high performance liquid chromatography].
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%).


CONCLUSIONS
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.
Cai
Shan-rong
SR
Cancer Institute, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009 P. R. China.
Zhang
Su-zhan
SZ
Zheng
Shu
S
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D017491:Genes, APC / Q000502:physiology*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction