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Detecting deletions in families affected by a dominant disease by use of marker data
Department of Clinical Chemistry, University Hospital, Malmö. (Biomedicin)ORCID iD: 0000-0002-9355-3901
2005 (English)In: Human Heredity, ISSN 0001-5652, E-ISSN 1423-0062, Vol. 60, no 1, 26-35 p.Article in journal (Refereed) Published
Abstract [en]

A method of testing for whether inherited deletions are a cause of a single-locus dominant disease was derived, involving analysis of the marker segregation within the pedigree of a single family that segregates for the disease. It is shown that markers can be used to test deductively for the presence of an inherited deletion. The probabilities of confirming or rejecting the presence of a deletion in an arbitrary pedigree without inbreeding are then derived. The power of the test is shown to be limited in single trios but to increase rapidly as the size of the pedigree increases. For larger pedigrees, the probabilities of confirming or rejecting a deletion are higher than 0.9 for SNPs having a minor allele frequency greater than 0.4. The probabilities are higher using multiallelic markers such as microsatellites, reaching levels as high as 0.9 in even rather small pedigrees. In certain cases the test outcome is not deductive, a deletion being neither confirmed nor rejected. It is shown to still be possible then to employ a statistical test for the presence of a deletion by use of an a priori probability for a deletion.

Place, publisher, year, edition, pages
2005. Vol. 60, no 1, 26-35 p.
Keyword [en]
Deletions, Dominant disease, Pedigree, SNP, Microsatellite
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:hkr:diva-8180DOI: 10.1159/000087541PubMedID: 16118504OAI: oai:DiVA.org:hkr-8180DiVA: diva2:424482
Available from: 2011-06-17 Created: 2011-06-17 Last updated: 2014-06-10Bibliographically approved

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Halldén, Christer

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