家族性腺瘤性息肉病APC基因突变分析.doc

福建医科大学 2011 级硕士研究生毕业论文 DNA lea ve l in this study. Thirty- fo ur fra gme nts covering the e ntire coding seq ue nce of the APC ge ne were amplified by PCR, and the PCR p rod ucts were detected by Sanger seq ue nc ing. Ge ne muta tio ns were fo und in all six pedigrees. The mutation of c.2891T＞G（L 964X ） in APC e xon 15 was detected in pedigree one, which c ha nged codon for le uc ine t o termina tio n codon at codon 964. The muta tio n of c.4012C＞T （Q1338X ） of exon 15 was detected in pedigree two, which altered the codon for Glutamine t o termination codon at codon 1338. The muta tio n of c.904C＞ T （ R302X ） of exon 8 was detected in pedigree three, which resulted arginine codon t o termina tio n codon at codon 302. The muta tio n of c.3927_3931delAAAGA of exon 15 was detected in pedigree fo ur, lead ing to p remature termination at codon 1312. The mutation of c.2154_2157delGAAA of exon 15 was detected in pedigree five, le ad ing to pre ma ture termina tio n at codon 716. The muta tio n of c.646C＞T （ R216X ） o f exon 6 was detected in pedigree s ix, changing the codon for arginine t o termina tio n codon at codon 216. All muta tions were searched for in the Human Ge ne Mutatio n Database (HGMD), and mutatio ns in pedigrees one and five were novel. Mo lec ula r d ia gnosis can re vea l the mutio ns of APC ge ne and the ge no types of the fa mily me mbe rs. It can also provide reliable data for ge net ic co nsulta tio n and prenatal d iagno sis, and co ntrib utes clinically earlier diagnosis and mor e accurate treatment to the affected individ ua ls. Keywords: familial ade no mato us polyposis; APC gene; ge ne mutation; mo lec ular diagnosis 5 万方数据 福建医科大学 2011 级硕士研究生毕业论文 前言 自 1847 年 Bussey [1]首次描述家族性腺瘤性息肉病（familial ade no ma to us polypo s is，FAP）以来，该疾病已得到广泛的关注和研究。FAP 是以结直肠内生 长成百上千枚腺瘤性息肉为主要