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探针VK5B与常染色体显性成人多囊肾病基因座PKD1位于同一区间。

Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1.

作者信息

Hyland V J, Suthers G K, Friend K, MacKinnon R N, Callen D F, Breuning M H, Keith T, Brown V A, Phipps P, Sutherland G R

机构信息

Cytogenetics Unit, Adelaide Children's Hospital, South Australia.

出版信息

Hum Genet. 1990 Feb;84(3):286-8. doi: 10.1007/BF00200577.

DOI:10.1007/BF00200577
PMID:1968038
Abstract

The polymorphic DNA probe VK5B (D16S94) was mapped by genetic linkage in families from the Centre d'Etude de Polymorphisme Humain (CEPH) as being in the same interval as the autosomal dominant adult polycystic kidney disease locus (PKD1). The maximum likelihood estimate of the genetic location of VK5B using multipoint linkage analysis was 9.6 cM proximal to 3'HVR (D16S85) and 5.4 cM distal to CRI-0327 (D16S63), in males. The VK5B probe may be useful in PKD1 families for prenatal and presymptomatic diagnosis of the disease. Additional typing of PKD1 families is required to determine whether the location of VK5B is distal or proximal to (PKD1).

摘要

多态性DNA探针VK5B(D16S94)通过遗传连锁定位在人类多态性研究中心(CEPH)的家系中,发现它与常染色体显性成人多囊肾病基因座(PKD1)位于同一区间。使用多点连锁分析对VK5B进行基因定位的最大似然估计是,在男性中,它位于3'HVR(D16S85)近端9.6厘摩处,CRI-0327(D16S63)远端5.4厘摩处。VK5B探针可能对PKD1家系的疾病产前和症状前诊断有用。需要对PKD1家系进行更多分型,以确定VK5B的位置是在PKD1的远端还是近端。

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引用本文的文献

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Linkage heterogeneity of autosomal dominant polycystic kidney disease.常染色体显性多囊肾病的连锁异质性
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Mapping the short arm of human chromosome 16.绘制人类16号染色体短臂图谱。
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