Multicenter genetic study of retinitis pigmentosa in Japan .1. Genetic heterogeneity in typical retinitis pigmentosa
Multicenter genetic study of retinitis pigmentosa in Japan .1. Genetic heterogeneity in typical retinitis pigmentosa
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DOI：
10.1016/s0021-5155(96)00018-4
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发表时间：
1997-01-01
影响因子：
2.4
通讯作者：
Ohba, N
中科院分区：
文献类型：
--
作者：
Hayakawa, M;Fujiki, K;Ohba, N
与日本各地 18 家医院合作开展了一项针对典型视网膜色素变性 (RP) 的全国性多中心研究，以获得遗传咨询的最新信息。我们根据 1990 年 6 个月期间登记的 434 名先证者的父母近亲关系分析了 RP 的遗传异质性。在 RP 患者的正常父母中，近亲结婚的频率逐渐下降。遗传模式的相对频率估计为：常染色体隐性遗传，25.2%；常染色体显性遗传，16.9%； X连锁，1.6%；和单纯形，56.3%。将这些结果与日本之前的报告进行比较，发现常染色体隐性遗传病例的相对频率有所下降，而单发病例则有所增加。这表明日本常染色体隐性遗传色素性视网膜炎的发病率有所下降，并且有必要进行详尽的调查，以确定寻求遗传咨询的 RP 患者的遗传模式。 (C) 1997 年日本眼科学会。
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 analysed 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 councelling. (C) 1997 Japanese Ophthalmological Society.