Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa
| Autor: | Osamu Tamura, Takehiko Sakuma, Takakazu Honda, Yasushi Isashiki, Muneyasu Takeda, Atsushi Kanai, Kazuyuki Yoshida, Yoshihito Honda, Mizuo Matsui, Wakabayashi K, Nobue Kubota, Kawano S, Miyo Matsumura, Kiyoshi Akeo, Keiko Fujiki, Masayuki Horiguchi, Emiko Adachi, Tomotsugu Yura, Masanobu Uyama, Tsuyoshi Kimura, Yozo Miyake, Hisayuki Ueno, Takashi Tokoro, Mutsuko Hayakawa, Kan Koizumi, Norio Ohba, Nobuto Ishizaka, Kanji Choshi, H Sakaue, Takashi Nakagawa, Michio Watanabe, Nobuko Tagami, Naomi Shimowake, Mitsuko Yuzawa, Yoshihisa Oguchi, Tatsuro Ishibashi, Makoto Tamai |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Proband Pediatrics medicine.medical_specialty Adolescent Genetic counseling Extrachromosomal Inheritance Genetic Counseling Nuclear Family Genetic Heterogeneity Genomic Imprinting Age Distribution Japan Retinitis pigmentosa medicine Humans Inheritance Patterns Age of Onset Child Aged Retrospective Studies Aged 80 and over Genetics Family Characteristics Genetic heterogeneity business.industry Incidence (epidemiology) General Medicine Middle Aged medicine.disease Ophthalmology Parental consanguinity Female business Retinitis Pigmentosa Consanguineous Marriage |
| Zdroj: | Japanese Journal of Ophthalmology. 41:1-6 |
| ISSN: | 0021-5155 |
| DOI: | 10.1016/s0021-5155(96)00018-4 |
| Popis: | A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling. |
| Databáze: | OpenAIRE |
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