摘要
目的:分析2个家族性腺瘤性息肉病(FAP)家系APC基因外显子1～15(E1～E15)基因突变情况,探讨FAP的分子遗传学机制。方法:抽取2个FAP家系成员静脉血,并提取基因组DNA,PCR-SSCP法检测APC基因E1～E15,对可疑条带进行DNA测序分析。结果:PCR-SSCP电泳显示,DNA条带未发现明显异常。经测序分析,证实无突变。结论:上述2个家系均未发现APC基因E1～E15突变,APC基因可能不应该作为FAP的惟一诊断基因。
Aim:To detect the mutation of APC gene exton 1~exton 15 (E1～E15) in two FAP pedigrees in Henan province. Methods:DNA were extracted from the two pedigrees numbers blood to detect the E1～E15 mutation through PCR-SSCP,and sequence the suspicious samples. Results:DNA immigration strap had no obviously abnormality and there was no mutation.Conclusion:There was no mutation of APC gene E1～E15 in the two FAP pedigrees.The APC gene can not probably be the only diagnosis gene of FAP.
出处
《郑州大学学报（医学版）》
CAS
北大核心
2009年第2期425-427,共3页
Journal of Zhengzhou University(Medical Sciences)
