摘要
先天性致密核性白内障遗传属质量性状，为单基因遗传病。五个家系谱分析发现发病率为８／２１；男／女＝５／３；表现为连续传递且以完全显性遗传为主，少数家系表现为不规则显性遗传，外显率为８／１３（６１．５４％），核型组成：４４＋ＸＹ（ＸＸ），染色体数目正常。
In this paper,it had been found that the inherited character of the congenital dense nuclear cataract(CDNC)was shown the inconsistence,which was called the quantiative character and was believed to be the single gene genetic disease.The incidence of which was 8/21,the ratio of man to feman was 5/3.Most of the CDNC pedigrees were shown the type of total autosomal inheritence,although some pedigrees were also shown the irregular inheritence.The penetrance was 61 54% and the karotype of the CDNC was 44+XY(XX).It had also been found that the relative length(RL) of chromsome 2 was significantly lower than that of normal group,but the RL of chromsome 4 was significantly higher than that of normal group.The arm ratio(AR) of chromsome 2 and 4 were all significantly higher than that of normal group,and the centromeric index(CI) of chromsome 2 and 4 were all significantly higher than that of normal group.
出处
《中国实用眼科杂志》
CSCD
1998年第3期152-154,共3页
Chinese Journal of Practical Ophthalmology
关键词
白内障
先天性
系谱
核型
遗传学
Congenital dense nuclear cataract Pedigree Karotype
