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

Détails

ID Serval
serval:BIB_BFC5FAB33833
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene
Périodique
Molecular Vision
Auteur(s)
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.
ISSN
1090-0535 (Electronic)
Statut éditorial
Publié
Date de publication
12/1998
Volume
4
Pages
31
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Dec 31
Résumé
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.
Mots-clé
Amyloidosis/*genetics Chromosome Mapping Chromosomes, Human, Pair 3 Corneal Dystrophies, Hereditary/*genetics Female Haplotypes Humans In Situ Hybridization, Fluorescence Lactoferrin/*genetics Linkage (Genetics) Male Pedigree Polymorphism, Genetic Polymorphism, Single-Stranded Conformational
Pubmed
Création de la notice
28/01/2008 12:59
Dernière modification de la notice
20/08/2019 15:34
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