Cachon-Gonzalez M B, Delhanty J D, Burn J, Tsioupra K, Davis M B, Attwood J, Chapman P
Department of Genetics and Biometry, Galton Laboratory, University College, London.
J Med Genet. 1991 Oct;28(10):681-5. doi: 10.1136/jmg.28.10.681.
Linkage analysis was carried out on 20 unselected UK families segregating for adenomatous polyposis coli (APC) using four closely linked DNA probes. Significant lod scores were obtained between APC and three markers: pi 227 (D5S37) theta = 0.16; C11p11 (D5S71) theta = 0.10; and YN5.48 (D5S81) theta = 0.00. The fourth, ECB27 (D5S98), gave low lod scores. The APC gene showed linkage with at least one of the probes used in all families, which is in agreement with previous publications. Combined lod scores are now sufficiently high to allow the use of these probes in presymptomatic diagnosis. Despite the fact that 61% of persons at risk were informative for at least one DNA marker, only 15% were informative with flanking probes. One prenatal diagnosis was performed where the initial request had been for sterilisation.
使用四个紧密连锁的DNA探针，对20个未经过选择的、分离出结肠腺瘤性息肉病（APC）的英国家庭进行了连锁分析。在APC与三个标记之间获得了显著的lod分数：pi 227（D5S37），θ = 0.16；C11p11（D5S71），θ = 0.10；以及YN5.48（D5S81），θ = 0.00。第四个标记ECB27（D5S98）给出的lod分数较低。APC基因在所有家庭中均与至少一个所使用的探针显示连锁，这与先前的出版物一致。组合lod分数现在足够高，允许在症状前诊断中使用这些探针。尽管有61%的风险人群对至少一个DNA标记有信息，但只有15%的人对侧翼探针有信息。在最初请求绝育的情况下进行了一次产前诊断。
