Amikam D, Niv D, Lachter J, Eidelman S, Ben-Ishai Z
Molecular Genetics Laboratory, Rambam Medical Center and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Isr J Med Sci. 1997 Jan;33(1):8-13.
Familial adenomatous polyposis (FAP), an autosomal dominant inherited disease, confers a high risk of colon cancer. For presymptomatic diagnosis of FAP, we performed linkage studies in three unrelated Israeli families with FAP, using seven polymorphic systems around or at the APC locus on chromosome 5q. These systems are constituted of three DNA probes, recognizing four restriction fragment length polymorphism: C11p11, YN5.48 and pi227; three cytosine-adenine repeat markers: D5S318, D5S346 and MBC; and one intragenic polymorphism: APC-SspI. A meiotic recombination event was detected, apparently between the FAP gene and probe pi227. Based on the different analysis systems, we determined the haplotype at the APC locus in 11 at-risk individuals of the three families, six of whom were found to carry the disease-linked allele. Additionally, we identified a new FAP patient, in whom sigmoidoscopy showed the presence of adenomatous polyps throughout the colon.
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传病，会导致患结肠癌的高风险。为了对FAP进行症状前诊断，我们在三个无血缘关系的以色列FAP家族中进行了连锁研究，使用了位于5号染色体长臂上APC基因座周围或该基因座处的七个多态系统。这些系统由三个DNA探针组成，可识别四种限制性片段长度多态性：C11p11、YN5.48和pi227；三个胞嘧啶 - 腺嘌呤重复标记：D5S318、D5S346和MBC；以及一个基因内多态性：APC-SspI。检测到一个减数分裂重组事件，显然发生在FAP基因与探针pi227之间。基于不同的分析系统，我们确定了这三个家族中11名有患病风险个体的APC基因座单倍型，其中六人被发现携带与疾病相关的等位基因。此外，我们还鉴定出一名新的FAP患者，其乙状结肠镜检查显示整个结肠均存在腺瘤性息肉。
