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

Research output: Contribution to journalArticle

80 Scopus citations

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 languageEnglish (US)
Pages (from-to)757-762
Number of pages6
JournalAmerican journal of human genetics
Volume58
Issue number4
StatePublished - 1996

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Vance, J. M., Jonasson, F., Lennon, F., Sarrica, J., Damji, K. F., Stauffer, J., Pericak-Vance, M. A., & Klintworth, G. K. (1996). Linkage of a gene for macular corneal dystrophy to chromosome 16. American journal of human genetics, 58(4), 757-762.