Linkage of a gene for macular corneal dystrophy to chromosome 16

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Autosomal recessive macular corneal dystrophy (MCD) is a heterogeneous disorder leading to visual impairment. Sixteen American and Icelandic families (11 type I and 5 type II) were analyzed...

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Bibliographic Details
Main Authors: Vance, J M, Jonasson, F, Lennon, F, Sarrica, J, Damji, K F, Stauffer, J, Pericak-Vance, M A, Klintworth, G K
Other Authors: Department of Medicine, Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710-2900, USA.
Format: Article in Journal/Newspaper
Language:English
Published: University of Chicago Press 2010
Subjects:
Americas
Chromosomes
Human
Pair 16
Corneal Dystrophies
Hereditary
Female
Genetic Heterogeneity
Humans
Iceland
Linkage (Genetics)
Male
Pedigree
Online Access:http://hdl.handle.net/2336/112602
Description
Summary:To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Autosomal recessive macular corneal dystrophy (MCD) is a heterogeneous disorder leading to visual impairment. Sixteen American and Icelandic families (11 type I and 5 type II) were analyzed for linkage, by use of 208 polymorphic microsatellite markers. A significant maximum LOD score Zmax of 7.82 at a maximum recombination fraction (thetamax) of .06 was found with the 16q22 locus D16S518 for MCD type I. In addition, a peak LOD score of 2.50 at a recombination fraction of .00 was obtained for the MCD type II families, by use of the identical marker. These findings raise the possibility that MCD type II may be due to the same genetic locus that is involved in MCD type I.

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