内蒙古地区妇女散发性乳腺癌BRCA1基因突变分析

Mutation Screening of the BRCA1 Gene in Sporadic Breast Cancer in Inner Mongolia Women

目的：筛查内蒙古地区散发性乳腺癌患者中BRCAl突变位点。方法：收集新近确诊的乳腺癌患者病例及全血标本40例。以及非癌乳腺良性疾病患者全血30例作为对照，利用TIANampBloodDNA Kit试剂盒获取基因组DNA；PCR方法扩增基因组DNA的BRCAl基因第11外显子的2620～2894bp和3570～3847bp片段．所有标本利用ABl3100-DNA测序仪分析扩增的DNA片段。结果：测序的DNA片段与GeneBank中的序列进行了比对，在所扩增DNA片段中未发现碱基的突变。结论：在我们的研究中所检测的散发性乳腺癌患者的BRCAl基因第11外显子2620～2894bp和3570～3847bp区域未发现突变。

Objective： To analysis mutation site of the BRCA1 gene in sporadic breast cancer in Inner Mon- golia women. Methods： We collected fresh breast cancer specimens with matched blood sample from 40 patients, and blood sample from 30 unrelated normal women without cancer was selected as control. Genomic DNA was isolated from peripheral blood samples using TIANamp Blood DNA Kit extraction. The entire BRCA1 coding se- quence was amplified by PCR with primers especially designed. The 2 620～2894 bp and 3 570～3 847 bp frag- ments of exon 11 were amplified, which sequence analysis were performed in an ABI3100 DNA sequencer. Re- sults： We compared sequence of two DNA fragments with that in the GeneBank, no nucleotide alteration was found in two DNA fragments. Conclusion： There hash＇ t been any mutation found within the part of sporadic breast cancer patients＇ BRCA1 gene exon 11 expressed 2 620～2 894 bp and 3 570～3 847 bp region during our study.