Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene.

G. K. Klintworth*, J. R. Sommer, G. Obrian, L. Han, M. N. Ahmed, M. B. Qumsiyeh, P. Y. Lin, S. Basti, M. K. Reddy, A. Kanai, Y. Hotta, J. Sugar, G. Kumaramanickavel, F. Munier, D. F. Schorderet, L. El Matri, F. Iwata, M. Kaiser-Kupfer, M. Nagata, K. NakayasuJ. F. Hejtmancik, C. T. Teng

*Corresponding author for this work

Research output: Contribution to journalArticle

30 Scopus citations

Abstract

PURPOSE: Because corneal tissue with familial subepithelial corneal amyloidosis (FSCA; gelatinous drop-like dystrophy of the cornea) contains lactoferrin the possibility that the FSCA gene was the human lactoferrin (hLF) gene was investigated. Due to contradictory published information we also mapped the hLF gene. METHODS: We mapped the hLF gene using a genomic clone of the entire hLF gene as a probe by fluorescence in situ hybridization (FISH). Utilizing PCR primers that are specific to the hLF gene, we also mapped the hLF via radiation somatic cell hybrid analysis. Linkage of the FSCA gene to the hLF gene was evaluated by genetic linkage analysis using polymorphic markers within and in the vicinity of the hLF gene. RESULTS: The hLF gene mapped to the short arm of chromosome 3 at 3p21. Linkage analysis using polymorphic markers for hLF and haplotype analysis of the 3p21 loci indicates that the FSCA gene is not linked to the 3p21 locus. CONCLUSIONS: The gene for FSCA is not the hLF gene in these families.

Original languageEnglish (US)
Number of pages1
JournalMolecular vision
Volume4
StatePublished - Dec 31 1998

ASJC Scopus subject areas

  • Ophthalmology

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    Klintworth, G. K., Sommer, J. R., Obrian, G., Han, L., Ahmed, M. N., Qumsiyeh, M. B., Lin, P. Y., Basti, S., Reddy, M. K., Kanai, A., Hotta, Y., Sugar, J., Kumaramanickavel, G., Munier, F., Schorderet, D. F., El Matri, L., Iwata, F., Kaiser-Kupfer, M., Nagata, M., ... Teng, C. T. (1998). Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. Molecular vision, 4.