PCR-SSCP银染方法检测BRCA1基因核苷酸部位2731的多态性

Polymorphic analysis of the point 2731 in BRCA1 gene by using method of PCR and single strand conformation polymorphism with silver stain.

乳腺癌易感基因 BRCA1是肿瘤抑制基因之一,它定位于染色体17q21,编码一个尚不清楚的蛋白质,分子量20万道尔顿,含有1863个氨基酸。已发现 BRCA1基因的200个以上突变及30个以上多态位点。本文用 PCR-SSCP 银染方法检测其核苷酸部位2731的多态性,具有经济、快速、灵敏、相对简单易行和可靠的优点。将此法用于检测18例家族性乳腺癌先证者的染色体组 DNA,结果显示,33%(6/18)表现为多态性,其中2例为多态性纯合子。其多态性的生物学意义及其与乳腺癌、卵巢癌的关系有待进一步研究。

BRCA1 is a putatie tumour suppressor gene located on chromosome 17q21.It encodes a protein which function is currently unclear.It is 200KD consisting of 1863 aminoacids.More than 200 dis- tinct germline mutations and more than 30 points of polymorphism have now been identified.Using the methods of polymerase chain reaction (PCR) and single strand conformation polymorphism (SS- CP) with silver stain the polymorphism of point 2731 in BRCA1 gene was analysed.It shows that the methods are cheap,quick,susceptible,relative easy and reliable.Applying these methods to anal- yse the gDNA of probands in 18 hereditary breast cancer families thirty-three percent (6/18) showed polymorphism,two of them are homogygote. More studies of the biological significance of this polymorphism and the relationship between this polymorphism and breast cancer and ovarian cancer are needed.