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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 high risk relatives of patients with familial adenomatous polyposis for their early detection and treatment of asymptomatic carriers of pathogenic genes. Methods The genotypes of familial adenomatous polyposis pedigree were determined, and the DNA of peripheral blood of high risk relatives was extracted to detect the mutation. Results Among the 3 high-risk relatives found in exon 15 of the mutant familial adenomatous polyposis patients, one of the high-risk relatives was found to be a carrier, and two were not detected pathogenic genes as normal. Conclusion The strict management of patients with familial adenomatous polyposis and high-risk relatives can make the diagnosis of early age, and may be prophylactic surgery in the appropriate time to reduce the familial adenomatous polyposis rate of cancer and mortality.