SCREENING GUIDELINES AND PREMORBID DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS USING LINKAGE
SCREENING GUIDELINES AND PREMORBID DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS USING LINKAGE
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DOI：
10.1016/0016-5085(91)90666-9
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发表时间：
1991-06-01
期刊：
影响因子：
29.4
通讯作者：
NAKAMURA, Y
中科院分区：
文献类型：
--
作者：
PETERSEN, GM;SLACK, J;NAKAMURA, Y
染色体5 q21 -22区域的限制性片段长度多态性现在可用于家族性腺瘤性息肉病的病前诊断和咨询。两个家庭中，家族性腺瘤性息肉病的DNA诊断进行连锁限制性片段长度多态性。筛选指南是利用来自圣马可医院（伦敦）和西澳大利亚（珀斯）息肉病登记处的数据对随后发展为家族性腺瘤性息肉病的高危家庭成员进行改进的。在这些登记中，137名亲属中有103名在初次筛查时检测为阳性;在其余34名亲属中，初次筛查阴性与家族性腺瘤性息肉病发展之间的平均间隔为7.5年。所有那些遗传了家族性腺瘤性息肉病基因的人在34岁时表现出息肉。结合连锁标记数据，如果乙状结肠镜检查的初始阴性结果和连锁分析的阴性诊断，亲属的先验50%风险现在可以在30岁时降低到< 0.5%。对于那些通过连锁发现有遗传性家族性腺瘤性息肉病的筛查管理从既定的建议保持不变;然而，对于那些最有可能没有遗传性家族性腺瘤性息肉病的个体，临床医生可以强调筛查管理的积极方面，包括更长的筛查间隔。
Restriction fragment-length polymorphisms in the chromosome 5q21–22 region can now be used clinically for premorbid diagnosis and counseling in familial adenomatous polyposis. Two families are presented in which DNA diagnosis for familial adenomatous polyposis was performed using linked restriction fragment-length polymorphisms. Screening guidelines are improved using data from the polyposis registers at St. Mark's Hospital (London) and Western Australia (Perth) on at-risk family members who subsequently developed familial adenomatous polyposis. In these registers, 103 of 137 relatives tested positive on initial screening; of the remaining 34, the average interval between initial negative screening and development of familial adenomatous polyposis was 7.5 years. All those who had inherited the familial adenomatous polyposis gene manifested the polyps by age 34 years. Combined with linkage marker data, the a priori 50% risk for relatives can now be reduced to < 0.5% by age 30 years if there is an initial negative result on sigmoidoscopy and a negative diagnosis by linkage analysis. The screening management for those found by linkage to have inherited familial adenomatous polyposis remains unchanged from established recommendations; however, for individuals who most likely have not inherited familial adenomatous polyposis, the clinician can emphasize the positive aspects of screening management, including longer screening intervals.