一种新的BRCA1等位基因

A New BRCA1 Allele

目的 对乳腺癌易感基因- 1(BRCA 1) m RNA进行全长序列分析。方法 采用逆转录PCR(RT-PCR)技术和c DNA测序,分析3名个体的BRCA1基因m RNA全长序列,3名个体中,2名为乳腺癌患者,另一名为健康献血者。结果 健康献血者的BRCA1基因m RNA序列与以往报道的正常m RNA序列(U 14 6 80 )完全一致;1名患者的BRCA 1m RNA序列在第11外显子发现5处碱基突变外:2 2 0 1C>T,2 4 30 T>C,2 731C>T,32 32 A>G和36 6 7A>G,在第13和第15外显子各有一处碱基变异:4 4 2 7T>C和4 95 6 A>G;另一名患者则在上述碱基变异位点均表现为正常BRCA1基因和突变等位基因的杂合性。结论 结果表明通过BRCA 1基因m RNA序列分析,发现一新的等位基因,该基因与正常BRCA1编码区序列存在7处碱基差异,新等位基因已由EMBL /Gen Bank/DDBJ收录,注册号为AY75 14 90。

Objective Sequencing the full length BRCA1 mRNA. Methods The mRNAs of three individuals, （2 breast cancer patients and 1 healthy blood donor）, were analyzed through reversedtranscriptasePCR （RT-PCR） and cDNA sequencing. Results The donor had identical mRNA sequence as normal BRCA1 mRNA, whereas in one patient, 2 polymorphisms in exon 13 and 15： 4427T〉C and 4956A〉G, and 5 mutations in exon 11： 2201C〉T, 2430T〉C, 2731C〉T, 3232A〉G and 3667A〉G were found, Another patient was heterozygous of all 7 polymorphisms and with normal BRCA1 sequence. Conclusion A new BRCA1 allele was found in Chinese, which had 7 polymorphisms as compared with wild type of BRCA1 mRNA. The EMBL/GenBank/DDBJ accession number of this allele is AY751490.