| Accession number;02A0550803 |
| Title;Geographical Feature of Lattice Corneal Dystrophy Patients in Aichi Prefecture: An Analysis of the TGFBI Gene. |
| Author;HIRANO KOJI(Nagoyadai I Ganka) NAKAMURA MAKOTO(Nagoyadai I Ganka) YAMAMOTO NORIAKI(Gamagori City Hosp.) HOTTA YOSHIHIRO(Nagoyadai I Ganka) |
Journal Title;Journal of Japanese Ophthalmological Society
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Journal Code:Z0666A
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ISSN:0029-0203
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VOL.106;NO.6;PAGE.352-359(2002)
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| Figure&Table&Reference;FIG.8, TBL.3, REF.23 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;Purpose: To investigate the genetics of patients with lattice corneal dystrophy (LCD) in Aichi Prefecture, the majority of whom originated from the same area of Hazu-gun. Methods: We studied twenty patients who visited Nagoya University Hospital from April 1997 to March 2000 and were diagnosed as having LCD. A complete history including a detailed family history was obtained from each of the patients. DNA analysis was performed on each patient with an informed consent. Results: Fourteen patients had an obvious family history, and 7 pedigrees were detected. Four of the 7 families were from Hazu-gun, and Arg 124 Cys mutation in the TGF-.BETA. indused gene human 3 (TGFBI) gene was detected in the families. A family from Nishikasugai-gun had a Leu 518 Pro mutation in the same gene. Six patients were considered sporadic without any family history. However, a heterozygous single base-pair transition (leucine to arginine) was detected in codon 527 of the TGFBI gene in 4 out of these 6 patients. Conclusion: Genetic analysis confirmed that LCD observed in patients from Hazu-gun is a type I LCD caused by an Arg 124 Cys mutation in the TGFBI gene. TGFBI gene mutations, other than the Arg 124 Cys, were detected in a family with LCD type I in Aichi Prefecture. Among the autosomal dominant inherited LCDs, there is at times a sporadic pattern because of its late-onset form. (author abst.) |
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