Linkage of a gene for macular corneal dystrophy to chromosome 16

Jeffery M. Vance; Fridbert Jonasson; Felicia Lennon; Jennifer Sarrica; Karim F. Damji; Jennifer Stauffer; Margaret A. Pericak-Vance; Gordon K. Klintworth

Linkage of a gene for macular corneal dystrophy to chromosome 16

Jeffery M. Vance, Fridbert Jonasson, Felicia Lennon, Jennifer Sarrica, Karim F. Damji, Jennifer Stauffer, Margaret A. Pericak-Vance, Gordon K. Klintworth

Department of Ophthalmology & Visual Sciences, Medical College, Pakistan

Research output: Contribution to journal › Article › peer-review

89 Citations (Scopus)

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 score (Z(max)) of 7.82 at a maximum recombination fraction (Θ(max)) 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.

Original language	English
Pages (from-to)	757-762
Number of pages	6
Journal	American Journal of Human Genetics
Volume	58
Issue number	4
Publication status	Published - 1996

Cite this

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title = "Linkage of a gene for macular corneal dystrophy to chromosome 16",

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 score (Z(max)) of 7.82 at a maximum recombination fraction (Θ(max)) 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.",

author = "Vance, {Jeffery M.} and Fridbert Jonasson and Felicia Lennon and Jennifer Sarrica and Damji, {Karim F.} and Jennifer Stauffer and Pericak-Vance, {Margaret A.} and Klintworth, {Gordon K.}",

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T1 - Linkage of a gene for macular corneal dystrophy to chromosome 16

AU - Vance, Jeffery M.

AU - Jonasson, Fridbert

AU - Lennon, Felicia

AU - Sarrica, Jennifer

AU - Damji, Karim F.

AU - Stauffer, Jennifer

AU - Pericak-Vance, Margaret A.

AU - Klintworth, Gordon K.

PY - 1996

Y1 - 1996

N2 - 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 (Z(max)) of 7.82 at a maximum recombination fraction (Θ(max)) 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.

AB - 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 (Z(max)) of 7.82 at a maximum recombination fraction (Θ(max)) 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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JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

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Linkage of a gene for macular corneal dystrophy to chromosome 16

Abstract

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