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Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.ORCID iD: 0000-0003-4185-7409
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2004 (English)In: J Med Genet, ISSN 1434-5161, Vol. 41, no 3, 208-12 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2004. Vol. 41, no 3, 208-12 p.
Identifiers
URN: urn:nbn:se:uu:diva-95184OAI: oai:DiVA.org:uu-95184DiVA: diva2:169302
Available from: 2006-11-23 Created: 2006-11-23 Last updated: 2016-02-29Bibliographically approved
In thesis
1. Identification of Candidate Genes in Four Human Disorders
Open this publication in new window or tab >>Identification of Candidate Genes in Four Human Disorders
2006 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease.

IPS is a rare autosomal recessive skin disorder, which includes a premature birth of the affected child. We mapped the IPS locus to a region on chromosome 9q34, and within this region a haplotype is shared by IPS patients, which suggests a strong founder effect. The haplotype spans 76 kb, which includes four known genes. No sequence or mRNA expression alterations could be detected for the four genes in IPS patients.

A candidate region for an adult-onset leukodystrophy (ADLD) on chromosome 5 was investigated in a large Swedish family with ADLD. A significant multipoint LOD score of 9.45 was obtained for markers in the chromosome 5 region and fine-mapping of recombination events restricts a candidate gene region to 1.5 Mb.

Kostmann disease is an autosomal recessive form of severe congenital neutropenia. We have identified a 1.2 Mb region on chromosome 1q22 associated with the disease in the original Kostmann family. The region contains 37 genes.

In paper V, cDNA microarrays were used to asses the mRNA levels of 7,700 genes in lymphoblastoid cell lines derived from autistic and control samples. The SEMA5A gene, which is involved in axonal guidance, was found downregulated in the cells derived from autistic individuals, and this was confirmed by quantitative PCR.

In summary, candidate genes or gene regions have been identified for all four disorders and further studies are needed to confirm their roles in the pathogenesis of the disorders.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2006. 48 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 207
Keyword
Genetics, Ichthyosis, Leukodystrophy, Kostmann disease, Autism, Genetic disorders, Candidate gene, Genetik
Identifiers
urn:nbn:se:uu:diva-7344 (URN)91-554-6732-6 (ISBN)
Public defence
2006-12-15, Fåhraeus, Rudbecklaboratoriet, C5, Dag Hammarskjölds väg 20, Uppsala, 09:15
Opponent
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Available from: 2006-11-23 Created: 2006-11-23 Last updated: 2011-02-16Bibliographically approved

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