威尔逊氏病基因定位于13号染色体：与酯酶D位点连锁。
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
作者信息
Frydman M, Bonné-Tamir B, Farrer L A, Conneally P M, Magazanik A, Ashbel S, Goldwitch Z
出版信息
Proc Natl Acad Sci U S A. 1985 Mar;82(6):1819-21. doi: 10.1073/pnas.82.6.1819.
Abstract
Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasmin were measured on all available members. Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus. Efficient detection of linkage was made possible by the use of a multisibship inbred pedigree. The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.
摘要
威尔逊病（WD）是一种常染色体隐性遗传的铜代谢紊乱疾病，其根本缺陷尚不清楚。在一个有两代受影响个体的大型近交家系中，研究了27个常染色体标记的连锁情况。此外，还对所有可检测的成员测量了血清铜和铜蓝蛋白。发现WD基因与酯酶D位点之间存在紧密连锁（θ = 0.06），对数优势（lod）分数为3.21。通过使用多同胞近交系谱，实现了连锁的有效检测。发现与WD位点遗传连锁的多态性标记，对原发性基因缺陷的研究和临床服务都具有深远意义。
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本文引用的文献
1
Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.人类酯酶D和视网膜母细胞瘤基因在13号染色体14区带的区域定位。
Science. 1980 May 30;208(4447):1042-4. doi: 10.1126/science.7375916.
2
Genetic expression of Wilson's disease in cell culture: a diagnostic marker.威尔逊病在细胞培养中的基因表达：一种诊断标志物。
Science. 1980 Apr 18;208(4441):299-300. doi: 10.1126/science.7367859.
3
Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D.通过与酯酶D的连锁分析，将遗传性视网膜母细胞瘤基因定位于人类第13号染色体。
Science. 1983 Feb 25;219(4587):971-3. doi: 10.1126/science.6823558.
4
Abnormal copper metabolism in cultured fibroblasts from patients with Wilson's disease.威尔逊病患者培养的成纤维细胞中铜代谢异常。
J Inherit Metab Dis. 1980;3(4):155-7. doi: 10.1007/BF02312550.
5
Prenatal and postnatal diagnosis of diseases of copper metabolism.铜代谢疾病的产前和产后诊断
Ann Clin Lab Sci. 1982 Sep-Oct;12(5):372-80.
6
Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.视网膜母细胞瘤易感基因和人类酯酶D基因座的定位。
J Med Genet. 1984 Apr;21(2):92-5. doi: 10.1136/jmg.21.2.92.
7
Report of the Committee on Unassigned Linkage Groups.
Cytogenet Cell Genet. 1984;37(1-4):205-9. doi: 10.1159/000132010.
8
Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.从人类13号染色体中分离并对揭示多态性位点的DNA片段进行区域定位。
Am J Hum Genet. 1984 Jan;36(1):10-24.
9
Chromosome 13 restriction fragment length polymorphisms.13号染色体限制性片段长度多态性
Hum Genet. 1984;65(4):320-4. doi: 10.1007/BF00291555.
10
A genetic study of Wilson's disease: evidence for heterogeneity.威尔逊氏病的遗传学研究：异质性证据
Am J Hum Genet. 1972 Nov;24(6 Pt 1):646-66.
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