A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association
2006 (English)In: Journal of Human Genetics, ISSN 1434-5161, E-ISSN 1435-232x, Vol. 51, no 10, 864-871 p.Article in journal (Refereed) Published
Autosomal recessive congenital ichthyosis (ARCI) is a group of keratinisation disorders that includes the ichthyosis prematurity syndrome (IPS). IPS is rare and almost exclusively present in a restricted region in the middle of Norway and Sweden, which indicates a founder effect for the disorder. We recently reported linkage of IPS to chromosome 9q34, and we present here the subsequent fine-mapping of this region with known and novel microsatellite markers as well as single nucleotide polymorphisms (SNPs). Allelic association, evaluated with Fisher's exact test and P (excess), was used to refine the IPS haplotype to approximately 1.6 Mb. On the basis of the average length of the haplotype in IPS patients, we calculated the age of a founder mutation to approximately 1,900 years. The IPS haplotype contains a core region of 76 kb consisting of four marker alleles shared by 97.7% of the chromosomes associated with IPS. This region spans four known genes, all of which are expressed in mature epidermal cells. We present the results from the analysis of these four genes and their corresponding transcripts in normal and patient-derived samples.
Place, publisher, year, edition, pages
2006. Vol. 51, no 10, 864-871 p.
ichthyosis prematurity syndrome, Founder effect, association, haplotype analysis, chromosome 9q34
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-102936DOI: 10.1007/s10038-006-0035-zISI: 000240830800005PubMedID: 16946994OAI: oai:DiVA.org:uu-102936DiVA: diva2:217079