Familial adenomatous polyposis: A submicroscopic deletion at the APC locus in a family with mentally normal patients
Familial adenomatous polyposis: A submicroscopic deletion at the APC locus in a family with mentally normal patients
复制标题
DOI：
10.1007/bf02265266
复制
发表时间：
1996-02-01
期刊：
影响因子：
5.3
通讯作者：
Friedl, W
中科院分区：
文献类型：
--
作者：
Mandl, M;Caspari, R;Friedl, W
细胞遗传学上可见的缺失，包括腺瘤病结肠息肉病(APC)基因座，在智障息肉病患者中已被反复报道。我们报道了一个亚微观缺失约200kb的家系，其中包括超过3‘半的APC基因和邻近的DPI基因。通过侧翼标记和基因内标记的连锁分析检测到该缺失，并通过基因内粘粒克隆的原位杂交证实该缺失。所有家族性腺瘤性息肉病(FAP)患者和家庭中的高危人群都表现出正常的行为和智力。因此，可以想象，至少一些用常规方法无法确定突变的FAP患者可能有大的但亚显微的缺失。
Cytogenetically visible deletions that include the adenomatosis polyposis coli (APC) locus have repeatedly been reported in mentally handicapped polyposis patients. We report on a family with a submicroscopic deletion of about 200 kb including more than the 3' half of the APC gene and the adjacent DPI gene. The deletion was detected by linkage analysis with flanking and intragenic markers and proven by in situ hybridisation with intragenic cosmid clones. All the familial adenomatous polyposis (FAP) patients and persons at risk in the family show normal behaviour and intelligence. Thus, it is conceivable that at least some of the FAP patients in whom mutations could not be identified by routine methods may have large but submicroscopic deletions.