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

作者信息

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, Nakayasu K, Hejtmancik J F, Teng C T

机构信息

Department of Pathology, Duke University, Durham, NC 27710, USA.

出版信息

Mol Vis. 1998 Dec 31;4:31.

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.