摘要
为了解ｐ５３基因与卵巢癌的关系，采用ＰＣＲ产物－直接测序技术，初步分析了１５例卵巢恶性肿瘤ｐ５３基因第７、８外显子的突变。结果有２例第７外显子的２５２位密码子发生改变。１例为缺失第３位碱基Ｃ导致移码突变，另一例为第２位碱基Ｔ→Ａ颠换，导致错义突变。提示２５２位密码子可能在中国人卵巢癌中突变率较高，且易发于浆液性囊腺癌。
To detect point mutations of exons 7 and 8 of p53 in ovarian cancer and analyze their relationship,we examined 15 samples of primary ovarian cancer using the method of PCR product direct sequencing.In the two cases of the mutation of exon 7,we carried out direct sequencing of exon 8. Mutations were detected in 2 of 15 cases (2/15) and both of them located in 252 codon of exon 7.One was 1 base pair deletion CTC→CT and resulted in frame shift mutation.The other was transversion CTC→CAC and brought out missense mutation.Both of the cases were serous adnocarcinoma and at stage Ⅲ.The codon 252 may be a 'hot spot″ in ovarian cancer.Mutations in the p53 gene occurred frequently in serous adnocarcinoma.The relationhship between pathology stage and 'hot spot″ needs further studies in increasing the quantities.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1997年第6期329-331,共3页
Chinese Journal of Medical Genetics
关键词
卵巢肿瘤
P53基因
基因突变
PCR
Malignant ovarian tumor p53 gene Mutation PCR product direct sequencing
