八个紧密连锁的基因座将威尔逊氏病基因座定位在13q14 - q21区域内。
Eight closely linked loci place the Wilson disease locus within 13q14-q21.
作者信息
Bowcock A M, Farrer L A, Hebert J M, Agger M, Sternlieb I, Scheinberg I H, Buys C H, Scheffer H, Frydman M, Chajek-Saul T
机构信息
Department of Genetics, Stanford University School of Medicine, CA 94305.
出版信息
Am J Hum Genet. 1988 Nov;43(5):664-74.
Wilson disease (WD) is an autosomal recessive disorder resulting in an accumulation of copper in the liver, brain, and other organs. The WD locus (WND) has previously been linked to esterase D (ESD) and localized to 13q14-22. With the large Centre d'Etude Polymorphisme Humain cohort, a refined map of DNA markers from this region was constructed, with the following locus order: D13S1-D13S21-D13S22-D13S10-ESD-RB-WND-D 13S26-D13S12-D13S2. A significant excess of male recombination was observed between D13S21 and D13S22. Intervals distal to D13S22 showed an excess of female recombination. When these markers were tested on 19 WD families from a variety of ethnic backgrounds, the two closest loci were shown to be RB and D13S26. The retinoblastoma gene locus (RB) was shown to be proximal to WND at a distance of 4.4 centimorgans (cM), and D13S26 was placed distal to WND at a distance of 4.0 cM. ESD was assigned proximally at a distance of 9.4 cM. In all families studied WND was linked to one or more of the loci ESD, RB, or D13S26.
威尔逊病（WD）是一种常染色体隐性疾病，会导致肝脏、大脑和其他器官中铜的蓄积。WD基因座（WND）先前已与酯酶D（ESD）相关联，并定位于13q14 - 22。利用大型人类多态性研究中心队列，构建了该区域DNA标记的精细图谱，其基因座顺序如下：D13S1 - D13S21 - D13S22 - D13S10 - ESD - RB - WND - D13S26 - D13S12 - D13S2。在D13S21和D13S22之间观察到男性重组明显过多。D13S22远端的区间显示女性重组过多。当在来自不同种族背景的19个WD家族中对这些标记进行检测时，显示最接近的两个基因座是RB和D1十三号染色体短臂26（D13S26）。视网膜母细胞瘤基因座（RB）显示在距离WND近端4.4厘摩（cM）处，而D13S26位于WND远端4.0 cM处。ESD被定位于近端9.4 cM处。在所有研究的家族中，WND与ESD、RB或D13S26中的一个或多个基因座相关联。
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