Analysis Of The Pathogenic Mutations Of Gene In Five Familial Adenomatous Polyposis Pedigree In Yunnan Province

Objective:Our research is screening APC gene (the most common mutations gene of FAP) in new-collected FAP pedigrees,on the basic of arranging samples of familial adenomatous polyposis (FAP) in established Hereditary colorectal cancer specimens library in Yunnan Province. Our research continues detecting MYH,AXIN2which has been proved to be mutations gene in FAP,If the detection of APC gene in the samples is negative and compares our results and reports from domestic and overseas and explore whether gene mutations do something with nationality and regional divergence,as well as Preliminary establish the screening protocol on FAP pedigrees in Yunnan Province.Methods:Extract DNA from sample reserved in Hereditary colorectal cancer specimens library and new-collected ones specially amplify exon and promoter of APC gene; exon sequencing detects APC gene and its promoter occur point mutation. If the detection of APC gene in the samples is negative.Our research continues all exons detection of MYH gene and AXIN2gene.Results:Among DNA of five FAP pedigrees,new Gene mutations which lies in exon APC gene was detected in a patient in one pedigree and this mutations and find new missense mutation c.3519T>G(V1173G). However pathogenicity mutations of APC gene was not found in the rest members and other pedigrees. Compared to reports from domestic and overseas, The positive rate of The APC gene mutation was lower. New Gene mutations which lies in exon11was detected in a patient in one pedigree in MYH Gene mutation Detection; in Detection of AXIN2Gene mutation, the same exon occur Synonymous mutation which lies in exon6c.1365A>G(P455P); was detected in two members in A pedigree and one member in B and C pedigree,in two members in A pedigree and one member in C pedigree, the same exon occur Synonymous mutation which lies in exon2c.432T>C(I144I), exon6c.1386C>T(P462P), exon8c.2062C>T(L688L).Conclusions:The positive rate of APC mutation is lower in FAP pedigree in Yunnan Province,and there is no reports on new mutation of exon15of APC gene and new missense of this exon. It is first time to fulfill the analysis MYH AXIN2gene mutation. we find the new mutation of exon11is1119811200het delTGT in Detection of MYH Gene mutation; Synonymous mutation c.1365A>G(P455P); in exon6is detected in patients in two pedigree.Synonymous mutation in exon2c.432T>C(I144I),exon6c.l386CT(P462P),exon8c.2062CT(L688L) is detected in two pedigree, compared to the same reports from domestic and overseas,it is possible that FAP genes do something with nationality and regional divergence,as well as Preliminary in Yunnan Province. Difference are taken into account when we screen FAP mutation gene.