Japanese journal of ophthalmology · 1999
Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.
Сравнительное исследованиеСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Yokoyama A, Nao-i N, Date Y, Nakazato M, Chumann H, Chihara E, Sawada A, Matsukura S
Аннотация
PURPOSE: To describe a new mutation of the trabecular meshwork-inducible glucocorticoid response protein (TIGR) gene in a Japanese patient with familial primary open angle glaucoma (POAG).
METHODS: Standard ocular examinations were performed on the 44-year-old patient, his sister, and mother. DNA sequencing was used to identify the mutation. We also developed a DNA diagnostic method for detecting this missense mutation by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).
RESULTS: The patient, father, and sister had been diagnosed as having POAG. The patient and his sister had a Thr448Pro mutation (C-->A transition at the nucleotide number 1419) in exon 3. This mutation has not been reported before.
CONCLUSIONS: Gene analysis is promising for an early diagnosis among the family members of familial POAG patients and will contribute to early therapy before an occurrence of irreversible visual impairment.
METHODS: Standard ocular examinations were performed on the 44-year-old patient, his sister, and mother. DNA sequencing was used to identify the mutation. We also developed a DNA diagnostic method for detecting this missense mutation by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).
RESULTS: The patient, father, and sister had been diagnosed as having POAG. The patient and his sister had a Thr448Pro mutation (C-->A transition at the nucleotide number 1419) in exon 3. This mutation has not been reported before.
CONCLUSIONS: Gene analysis is promising for an early diagnosis among the family members of familial POAG patients and will contribute to early therapy before an occurrence of irreversible visual impairment.