0221062 染色体8衍生的额外的标记物和环当以染色体臂涂染来鉴定时短臂优先涉及/Batanian J R // Am J Med Genet.-2000,90(4).-276～282医科图0221063 多小脑回是一种不常见的22q11.2删除综合征的表现/Kawame H //Am J Med Genet.-2000...0221062 染色体8衍生的额外的标记物和环当以染色体臂涂染来鉴定时短臂优先涉及/Batanian J R // Am J Med Genet.-2000,90(4).-276～282医科图0221063 多小脑回是一种不常见的22q11.2删除综合征的表现/Kawame H //Am J Med Genet.-2000,94(1).展开更多
Purpose Congenital nystagmus (CN) is an eye movement disorder that usually st arts within the first months of life. Autosomal dominant, autosomal recessive, a nd X chromo somal pedigree patterns are observed. Causativ...Purpose Congenital nystagmus (CN) is an eye movement disorder that usually st arts within the first months of life. Autosomal dominant, autosomal recessive, a nd X chromo somal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease relevant genes for autosomal dominant CN (AD CN). AD CN cosegregated with a balanced translocation of 7;15 in a family . In a large black pedigree linkage was demonstrated to 6p12. Design In this stu dy, we describe a large German family with AD congenital nystagmus. Linkage of A D in this family was tested with previously implicated loci. Methods Affected fa mily members and unaffected members underwent genetic analysis. Key family membe rs underwent ophthalmologic testing and oculography. Results No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 was found in this study. Co nclusion In the presented pedigree genes on 15q11, and on the assumption of full penetrance, 6p12 and 7p11 are not involved in the development of AD congenital nystagmus.展开更多
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 histo...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.展开更多
文摘0221062 染色体8衍生的额外的标记物和环当以染色体臂涂染来鉴定时短臂优先涉及/Batanian J R // Am J Med Genet.-2000,90(4).-276～282医科图0221063 多小脑回是一种不常见的22q11.2删除综合征的表现/Kawame H //Am J Med Genet.-2000,94(1).
文摘Purpose Congenital nystagmus (CN) is an eye movement disorder that usually st arts within the first months of life. Autosomal dominant, autosomal recessive, a nd X chromo somal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease relevant genes for autosomal dominant CN (AD CN). AD CN cosegregated with a balanced translocation of 7;15 in a family . In a large black pedigree linkage was demonstrated to 6p12. Design In this stu dy, we describe a large German family with AD congenital nystagmus. Linkage of A D in this family was tested with previously implicated loci. Methods Affected fa mily members and unaffected members underwent genetic analysis. Key family membe rs underwent ophthalmologic testing and oculography. Results No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 was found in this study. Co nclusion In the presented pedigree genes on 15q11, and on the assumption of full penetrance, 6p12 and 7p11 are not involved in the development of AD congenital nystagmus.
文摘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.
