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Genome-wide linkage screen of a consanguineous multiple sclerosis kinship

Division of Neurology, Neurotec Department, Karolinska Institute at Huddinge University Hospital, Stockholm, Sweden, Helena.Modin{at}neurotec.ki.se

T Masterman

Division of Neurology, Neurotec Department, Karolinska Institute at Huddinge University Hospital, Stockholm, Sweden

T Thorlacius

deCODE Genetics, Reykjavik, Iceland

M Stefánsson

deCODE Genetics, Reykjavik, Iceland

A Jónasdóttir

deCODE Genetics, Reykjavik, Iceland

K Stefánsson

deCODE Genetics, Reykjavik, Iceland

J Hillert

Division of Neurology, Neurotec Department, Karolinska Institute at Huddinge University Hospital, Stockholm, Sweden

J Gulcher

deCODE Genetics, Reykjavik, Iceland

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.

Key Words: autoimmunity • autoso mal recessive • consanguinity • linkage • microsatellite repeats • multiple sclerosis

Multiple Sclerosis, Vol. 9, No. 2, 128-134 (2003)
DOI: 10.1191/1352458503ms894oa


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