LINKAGE OF A GENE FOR MACULAR CORNEAL-DYSTROPHY TO CHROMOSOME-16

Citation
Jm. Vance et al., LINKAGE OF A GENE FOR MACULAR CORNEAL-DYSTROPHY TO CHROMOSOME-16, American journal of human genetics, 58(4), 1996, pp. 757-762
Citations number
26
Categorie Soggetti
Genetics & Heredity
ISSN journal
00029297
Volume
58
Issue
4
Year of publication
1996
Pages
757 - 762
Database
ISI
SICI code
0002-9297(1996)58:4<757:LOAGFM>2.0.ZU;2-N
Abstract
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 s core (Z(max)) of 7.82 at a maximum recombination fraction (theta(max)) of .06 was found with the 16q22 locus D16S518 for MCD type I. In addi tion, 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 t he same genetic locus that is involved in MCD type I.