摘要
目的 对家族性腺瘤性息肉病患者的高危亲属进行筛选 ,以其早期发现及治疗无症状的致病基因携带者。方法 在明确家族性腺瘤性息肉病家系基因型后 ,提取其高危亲属外周血的脱氧核糖核酸 (DNA) ,检测该突变部位。结果 3例在 15号外显子上发现突变家族性腺瘤性息肉病患者的高危亲属中 ,有 1例检出致病基因 ,为携带者 ;2例未检出致病基因 ,为正常人。结论 对家族性腺瘤性息肉病患者及高危亲属的严格管理可将诊断年龄提早 ,并可在适当的时候进行预防性手术 ,以降低家族性腺瘤性息肉病的癌变率、病死率。
Objective To screen the dangerous relatives of familial adenomatous polyposis(FAP), in order to find and treat earlier the pathogenic gene carriers without symptoms. Methods After realizing the genotypes of FAP, DNA blood samples of the dangerous relatives were purified and amplified using PCR. Results Three dangerous relatives were analysed, one of them was gene carrier, two were normal. Conclusions Gene carrier can be diagnosed early when the patients and dangerous relatives of FAP were strictly managed. Then preventive operation can be done in a suitable time. The rate of malignant transformation and mortality of FAP can be reduced.
