Lasser D M, DeVivo D C, Garvin J, Wilhelmsen K C
Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY.
Neurology. 1994 Jun;44(6):1083-6. doi: 10.1212/wnl.44.6.1083.
To investigate the possibility that neuroepithelial tumors in Turcot's syndrome are caused by pleiotropic mutations in the gene for adenomatous polyposis coli (APC), a tumor-suppressor gene implicated in colonic cancer.
We studied the inheritance patterns of genetic markers for the chromosome 5q21 region in 12 members of a Turcot's syndrome kindred with five affected members. We performed linkage analysis to detect linkage between the disease phenotype and DNA markers.
Marker D5S346, located 30 to 70 kilobases from the APC locus, showed evidence highly suggestive of linkage to the disease phenotype (lod score = 1.92).
The data provide evidence that the tumor-suppressor gene implicated in APC and sporadic colon cancers may also cause malignant neuroepithelial tumors in Turcot's syndrome.
研究Turcot综合征中的神经上皮肿瘤是否由腺瘤性息肉病基因（APC）的多效性突变引起，该肿瘤抑制基因与结肠癌有关。
我们研究了一个有5名患者的Turcot综合征家族的12名成员中5号染色体q21区域遗传标记的遗传模式。我们进行连锁分析以检测疾病表型与DNA标记之间的连锁关系。
位于距APC基因座30至70千碱基处的标记D5S346显示出与疾病表型高度相关的证据（对数优势分数=1.92）。
数据表明，与APC和散发性结肠癌相关的肿瘤抑制基因也可能导致Turcot综合征中的恶性神经上皮肿瘤。
