Zigman A F, Lavine J E, Jones M C, Boland C R, Carethers J M
Department of Surgery, University of California, San Diego, La Jolla 92093-0688, USA.
Gastroenterology. 1997 Nov;113(5):1433-7. doi: 10.1053/gast.1997.v113.pm9352843.
BACKGROUND & AIMS: Bannayan-Riley-Ruvalcaba syndrome is a congenital syndrome with characteristic features of macrocephaly, cognitive and motor dysfunction, subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis. It has been suggested that Bannayan-Riley-Ruvalcaba syndrome may be a variant of juvenile polyposis coli because of the shared features of intestinal juvenile polyps. The aim of this study was to precisely map loss of DNA from 2 patients with intestinal juvenile polyposis and karyotypic abnormalities involving chromosome 10q.
DNA was extracted from peripheral leukocytes drawn from each patient and each patient's biological parents. The DNA was amplified by polymerase chain reaction using primers specific for microsatellites located on chromosome 10q.
Precise mapping localized a maximal distance of 1.0 cM that was commonly deleted from each patient's genome, between D10S541 and D10S1735. This area overlaps the region for Cowden disease, a distinct hamartomatous intestinal polyposis syndrome with increased risk of breast and thyroid carcinoma.
The three hamartomatous polyposis syndromes, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis coli, and Cowden disease, may share the same genetic defect because of their common map localization to chromosome 10q23.
班纳扬 - 莱利 - 鲁瓦尔卡巴综合征是一种先天性综合征，具有巨头畸形、认知和运动功能障碍、皮下及内脏脂肪瘤和血管瘤以及肠道幼年性息肉病等特征性表现。由于肠道幼年性息肉的共同特征，有人提出班纳扬 - 莱利 - 鲁瓦尔卡巴综合征可能是幼年性息肉病综合征的一种变异型。本研究的目的是精确绘制2例肠道幼年性息肉病且伴有涉及10号染色体长臂核型异常患者的DNA缺失图谱。
从每位患者及其生物学父母抽取的外周血白细胞中提取DNA。使用位于10号染色体长臂上的微卫星特异性引物，通过聚合酶链反应扩增DNA。
精确图谱定位显示，每位患者基因组中常见缺失的最大距离为1.0厘摩，位于D10S541和D10S1735之间。该区域与考登病区域重叠，考登病是一种独特的错构瘤性肠道息肉病综合征，患乳腺癌和甲状腺癌的风险增加。
班纳扬 - 莱利 - 鲁瓦尔卡巴综合征、幼年性息肉病综合征和考登病这三种错构瘤性息肉病综合征，可能因其在10号染色体长臂23区的共同图谱定位而具有相同的基因缺陷。
