| 先天性核性白内障的遗传 |
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| 引用本文： | 孔庆兰,王竫华,孙为荣,王培林.先天性核性白内障的遗传[J].青岛大学医学院学报,1987(2). |
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| 作者姓名： | 孔庆兰 王竫华 孙为荣 王培林 |
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| 作者单位： | 青岛医学院附院眼科
(孔庆兰，王竫华，孙为荣)，青岛医学院生物学教研室(王培林) |
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| 摘 要： | 本文报告3个家系、17例患者34眼先天性核性白内障,家系1、2的遗传方式为常染色体显性遗传,家系3为常染色体隐性遗传。本病可以与其它遗传病同时发生(如高度近视、大脑发育不全等),也可以并发其它遗传病(如红绿色盲等)。目前认为本病的发生要经过晶体内脱水收缩、增加异常结构成份和减少游离的晶体蛋白质聚集物三个过程。
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| 关 键 词： | 白内障 染色体异常 基因 显性 基因 隐性 晶体蛋白类 |
HEREDITY OF CONGENITAL NUCLEAR CATARACT |
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| Kong Qinglan.HEREDITY OF CONGENITAL NUCLEAR CATARACT[J].Acta Academiae Medicinae Qingdao Universitatis,1987(2). |
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| Authors: | Kong Qinglan |
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| Affiliation: | Kong Qinglan Department of Ophthalmology |
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| Abstract: | Three families, 17 patients 34 eyes with congenital nuclear cataract are reported in this article. It showed that hereditary pattern in pedigree one and two is autosomal dominant inheritance (AD), and in pedigree three autosomal recessive inheritance (AR). It also showed concurrence of this disease with other hereditary diseases, such as high myopia and incomplete development of cerebrum, etc. The patients may be complicated by other hereditary diseases, such as red-green blindness, etc. It is proposed that three processes contribute to this disease at present. |
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| Keywords: | Cataract Chromosome abnormalities Genes dominant Genes recessive Crystallins |
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