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DNA linkage analysis of X-linked retinoschisis.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
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1988 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 78, no 3, 228-32 p.Article in journal (Refereed) Published
Abstract [en]

Four families with juvenile retionoschisis (RS) have been studied by linkage analysis utilizing eleven polymorphic X-chromosomal markers. The results suggest a close linkage between DXS43, DXS41, and DXS208 and the RS locus at Xp22. The RS locus is distal to the OTC locus, DXS84, and the DMD locus but proximal to DXS85. No recombination events were observed between the RS locus and DXS43 and DXS41. The maximum likelihood estimate of the recombination fraction (theta) was thus zero and the peak lod scores (z) were 4.98 (DXS43) and 4.09 (DXS41). The linkage data suggest that the gene order on Xp is DXS85-(DXS43, RS, DXS41)-DMD-DXS84-OTC.

Place, publisher, year, edition, pages
1988. Vol. 78, no 3, 228-32 p.
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URN: urn:nbn:se:umu:diva-43995PubMedID: 2894345OAI: oai:DiVA.org:umu-43995DiVA: diva2:417577
Available from: 2011-05-17 Created: 2011-05-17 Last updated: 2017-12-11

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