瑞典遗传性非家族性腺瘤性息肉病和非遗传性非息肉病性结肠直肠癌家系的基因组连锁分析

来源 :世界核心医学期刊文摘(胃肠病学分册) | 被引量 : 0次 | 上传用户:pettey
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Background and aim: Known colorectal cancer syndromes, such as familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, have been identified in only a small proportion of cases with a family history of disease. In an attempt to identify loci harbouring novel predisposing genes, we have performed a genome wide linkage analysis in 18 colorectal cancer families recruited from the Department of Clinical Genetics at Karolinska Hospital, Sweden. Methods: Multipoint parametric and non-parametric linkage analyses were performed using two affected status criteria, stringent and less stringent. Parametric analysis was performed under the assumption of locus homogeneity and locus heterogeneity. Results: The initial scan performed using the less stringent affected status criteria revealed regions of interest on chromosome 11 (marker D11S1314: heterogeneity logarithm of odds (HLOD) score 1.96, non-parametric LOD (NPL) score 1.28; and marker D11S908: HLOD score 2.10, NPL score 2.16) and chromosome 14 (marker D14S258: HLOD score 2.61, NPL score 2.88). Using the stringent affected status criteria, a locus on chromosome 22 was suggested in the parametric analysis (marker D22S315: HLOD score 1.26). After fine mapping of the regions on chromosomes 11 and 14, HLOD and NPL scores were reduced but still within the range of suggestive linkage. Haplotype analysis revealed overlapping regions between D11S987 and D11S4207 (proximal region), D11S4120 and D11S4090 (distal region), on chromosome 11, and between D14S1038 and D14S1069 on chromosome 14. Conclusion: Our study provides evidence of genetic heterogeneity among Swedish colorectal cancer families. Three novel regions were suggested to be of interest in a proportion of families analysed. Further studies are needed to confirm this result. Background and aim: Known colorectal cancer syndromes, such as familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, have been identified in only a small proportion of cases with a family history of disease. In an attempt to identify loci harbor novel novel predisposing genes, we have performed a genome wide linkage analysis in 18 colorectal cancer families recruited from the Department of Clinical Genetics at Karolinska Hospital, Sweden. Methods: Multipoint parametric and non-parametric linkage analyzes were performed using two affected status criteria, stringent and less stringent. Parametric analysis was performed under the assumption of locus homogeneity and locus heterogeneity. Results: The initial scan performed using less stringent affected status criteria revealed regions of interest on chromosome 11 (marker D11S1314: heterogeneity logarithm of odds (HLOD) score 1.96, non-parametric LOD ( NPL score 1.28; and marker D11S908: HLOD score 2.10, NPL score 2 .16) and chromosome 14 (marker D14S258: HLOD score 2.61, NPL score 2.88). Using the stringent affected status criteria, a locus on chromosome 22 was suggested in the parametric analysis (marker D22S315: HLOD score 1.26). After fine mapping of the regions on chromosomes 11 and 14, HLOD and NPL scores were reduced but still within the range of suggestive link. Haplotype analysis revealed overlapping regions between D11S987 and D11S4207 (proximal region), D11S4120 and D11S4090 (distal region), on chromosome 11, and Between D14S1038 and D14S1069 on chromosome 14. Conclusion: Our study provides evidence of genetic heterogeneity among Swedish colorectal cancer families. Three studies are needed to confirm this result.
其他文献
Oils,condensates and natural gases in the Kekeya Field,southeast depression of the Tarim Basin were studied for their geochemical characteristics. According to
依据一近完整的相关节的骨骼化石,记述了辽宁建昌早白垩世九佛堂组原始今鸟类一新属种:小齿建昌鸟(Jianchangornis microdonta gen.et sp.nov.)。新鸟个体较大,但从骨化程度
本刊讯:日前在山东理工职业学院举行的第十届全国高职高专“发明杯”大学生创新创业大赛上,这些实用性很强的发明作品让专家评委们眼前一亮。本次大赛的参赛作品创意大多数来
高职教育已占我国高等教育的半壁江山,培养的是面向社会生产技术层兼具一定理论知识和较强实践能力的实用型、技术型专门人才。高职学生的法制观念、法律素质,直接关系到我国
患者女,53岁.主因上腹部胀满不适半个月,黑便伴乏力5 d于2005年3月9日入院.既往史:14年前行胆囊切除术,1年前行子宫和双附件切除.入院查体:轻度贫血貌,全身浅表淋巴结无肿大,全腹无压痛,未扪及肿块,无移动性浊音。
目的 探讨眼睑恶性肿瘤手术切除造成眼睑缺损的4种Ⅰ期整复及再造方法在功能修复与外观美容方面的作用.方法 将该院1993年至2005年经手术切除和病理确诊的眼睑恶性肿瘤80例进行分析讨论.根据肿瘤切除范围采用4种整形修复方法,观察近远期疗效及并发症.结果 80例中78例皮瓣Ⅰ期成活,色泽红润,外形满意.2例延迟愈合.结论 依据缺损范围采取4种不同方法均取得满意疗效。
《南通市城市抗震防灾规划》2009年1月8日由南通市政府批复同意实施。这意味着南通成为新的《城市抗震防灾规划标准》颁布实施后,全国首个实施该标准的城市。 “Nantong cit
目的通过研究HL-60细胞在多种化疗药物作用后mRNA和蛋白的改变,初步探讨Survivin基因和耐药性之间的关系。方法用合适浓度的柔红霉素(DNR)、米托蒽醌(MIT)和三氧化二砷(As2O3
根据水库诱发地震的发震相关因素和特点,确定出水库诱发地震数据库元参数和库结构,并通过资料收集初步建立起水库诱发地震数据库,它包含了全世界水库诱发地震震例1 31个、中
1.临床资料:患者男,38岁.因体检发现左上肺占位2周入院.全身检查,包括血常规、肝肾功能、B超等均无异常发现,MRI示左上肺舌段一个占位病变,直径1.2 cm,于2005年6月10日在全麻下行左上肺叶及肿瘤切除术。