先天性全核性白内障一个基因座的连锁关系
Linkage relations of a locus for congenital total nuclear cataract.
作者信息
Huntzinger R S, Weitkamp L R, Roca P D
出版信息
J Med Genet. 1978 Apr;15(2):113-5. doi: 10.1136/jmg.15.2.113.
Abstract
A family with an autosomal dominant form of congenital cataract, total nuclear cataract, was examined for genetic linkage between the cataract locus and 30 marker loci. Close linkage was excluded for all of the 21 informative loci. There was no significant evidence for linkage of the cataract locus with any of the marker loci.
摘要
对一个患有常染色体显性遗传形式先天性白内障（完全核性白内障）的家族，进行了白内障基因座与30个标记基因座之间的遗传连锁分析。对于所有21个提供信息的基因座，均排除了紧密连锁关系。没有显著证据表明白内障基因座与任何标记基因座存在连锁关系。
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本文引用的文献
1
Eyes on chromosomes.
J Med Genet. 1970 Sep;7(3):239-43. doi: 10.1136/jmg.7.3.239.
2
[Hereditary central cataract. Clinical-genetical study with linkage data (author's transl)].
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1973 Dec 3;189(1):9-19. doi: 10.1007/BF00411121.
3
A computer program for linkage analysis of general human pedigrees.一种用于普通人类家系连锁分析的计算机程序。
Am J Hum Genet. 1976 Sep;28(5):528-9.
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