显性遗传性视神经萎缩的连锁分析
Linkage analysis in dominant optic atrophy.
作者信息
Kivlin J D, Lovrien E W, Bishop D T, Maumenee I H
出版信息
Am J Hum Genet. 1983 Nov;35(6):1190-5.
Abstract
A kindred of German descent was studied for dominant optic atrophy, type Kjer (McKusick catalog no. 16540). One hundred twenty-three family members were examined clinically, and 36 affected, 81 normal, and six uncertain members were ascertained. Twenty-seven markers were analyzed for 121 members. The maximum lod score obtained was 2.0 at theta = .18 for linkage between the Kidd locus and dominant optic atrophy. Twenty-eight offspring were informative with 2-generation data. There was insufficient information for the acid phosphatase locus to aid gene localization. These data suggest that the locus for dominant optic atrophy is on chromosome 2.
摘要
对一个德裔家族进行了Kjer型显性遗传性视神经萎缩（麦库西克编号16540）的研究。对123名家族成员进行了临床检查，确定其中36名患病、81名正常以及6名情况不明。对121名成员分析了27个标记。在θ=0.18时，Kidd基因座与显性遗传性视神经萎缩之间连锁的最大对数优势分数为2.0。28名后代具有两代数据可提供信息。酸性磷酸酶基因座缺乏足够信息来辅助基因定位。这些数据表明显性遗传性视神经萎缩的基因座位于2号染色体上。
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本文引用的文献
1
Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.具有显性遗传模式的婴儿型视神经萎缩：对19个丹麦家庭的临床和遗传学研究
Acta Ophthalmol Suppl. 1959;164(Supp 54):1-147.
2
Sequential tests for the detection of linkage.用于检测连锁的序贯检验。
Am J Hum Genet. 1955 Sep;7(3):277-318.
3
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy.一例显性遗传性视神经萎缩患者眼部、视神经及脑部的组织病理学表现
Acta Ophthalmol (Copenh). 1983 Apr;61(2):300-12. doi: 10.1111/j.1755-3768.1983.tb01424.x.
4
Report of the committee on the genetic constitution of chromosomes 2, 3, 4, and 5.关于2号、3号、4号和5号染色体遗传构成的委员会报告。
Birth Defects Orig Artic Ser. 1982;18(2):121-9.
5
[Linkage studies in infantile optic atrophy with a dominant mode of inheritance].[具有显性遗传模式的婴儿型视神经萎缩的连锁研究]
Humangenetik. 1966;2(4):363-71. doi: 10.1007/BF00396453.
6
Hereditary optic atrophies in childhood.儿童遗传性视神经萎缩
J Genet Hum. 1966 Dec;15(3):312-21.
7
Similarities between congenital tritan defects and dominant optic-nerve atrophy: coincidence or identity?
J Opt Soc Am. 1970 Aug;60(8):1132-9. doi: 10.1364/josa.60.001132.
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