| 1. |
- Modin, H, et al.
(författare)
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Genome-wide linkage screen of a consanguineous multiple sclerosis kinship
- 2003
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 9:2, s. 128-134
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis (MS), like A lzheimer’s disease (A D) and Parkinson’s disease (PD), is a common neurological disorder thought to be caused by the interaction of several genes with unknown environmental factors. In both A D and PD the identification of disease forms inherited in a classic Mendelian fashion has helped investigators elucidate pathogenetic mechanisms. In this study a whole-genome screen, with an average of 608 successful genotypes per person, was performed on nine members of a consanguineous family: the index case, three of her siblings and her daughter, all of whom have been diagnosed with definite MS; as well as the parents of the index case (first cousins), one of her five healthy siblings and her husband (who is also her first cousin). Nonparametric linkage analysis was performed on genotyping data. Based on the presence of consanguinity, the a priori hypothesis was that the disease is transmitted in an autosomal recessive fashion in the pedigree. Linkage analysis revealed a suggestive logarithm of odds (LO D) score of 2.29 on the long arm of chromosome 9. Four of five affected family members were identically homozygous for a haplotype under this peak, spanning approximately 43 cM, while the fifth affected subject and all unaffected family members were hetero zygous for the haplotype.
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| 2. |
- Giedraitis, V., et al.
(författare)
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Genome-wide TDT analysis in a localized population with a high prevalence of multiple sclerosis indicates the importance of a region on chromosome 14q
- 2003
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Ingår i: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 4:8, s. 559-563
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Tidskriftsartikel (refereegranskat)abstract
- Epidemiological studies show that susceptibility to multiple sclerosis (MS) has a strong genetic component, but apart from the HLA gene complex, additional genetic factors have proven difficult to map in the general population. Thus, localized populations, where MS patients are assumed to be more closely related, may offer a better opportunity to identify shared chromosomal regions. We have performed a genome-wide scan with 834 microsatellite markers in a data set consisting of 54 MS patients and 114 healthy family members. A group of families from a small village were possible to track back to common ancestors living in the 17th century. We used single marker- and haplotype-based transmission disequilibrium test (TDT) analysis and nonparametric linkage analysis to analyze genotyping data. Regions on chromosomes 2q23–31, 6p24–21, 6q25–27, 14q24–32, 16p13–12 and 17q12–24 were found to be in transmission disequilibrium with MS. Strong transmission disequilibrium was detected in 14q24–32, where several dimarker haplotypes were in transmission disequilibrium in affected individuals. Several regions showed modest evidence for linkage, but linkage and TDT were both clearly positive only for 17q12–24. All patients and controls were also typed for HLA class II genes; however, no evidence for a gene–gene interaction was observed.
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| 3. |
- Stefansson, E, et al.
(författare)
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Nordic research in ophthalmology
- 2003
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Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907. ; 81:6, s. 556-566
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Forskningsöversikt (refereegranskat)abstract
- Purpose: To provide an overview of some of the current activities in eye research in the Nordic countries. Methods: The presentations at the biannual Nordic Congress of Ophthalmology, held in Tampere, Finland in 2002, were reviewed and the contributions found most noteworthy are included in this article along with a limited discussion of each research field. However, space requirements prevented the inclusion of many interesting scientific contributions. Results: Important contributions in various subfields of eye research and ophthalmology are reviewed. These include cornea, cataract, paediatric ophthalmology, glaucoma, diabetic eye disease, age-related macular degeneration, physiology and pharmacology and oncology. Conclusions: Eye research is very active in the Nordic countries and significant contributions are being made to ophthalmology in several fields on a world scale. We hope to continue to review Nordic contributions to eye research after each Nordic Congress of Ophthalmology and plan to make the reviews more systematic and comprehensive in the future.
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