染色体标记D13S31的物理定位将威尔逊病基因座定位于13号染色体q14.3和q21.1带的交界处。
Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13.
作者信息
Kooy R F, Van der Veen A Y, Verlind E, Houwen R H, Scheffer H, Buys C H
机构信息
Department of Medical Genetics, University of Groningen, The Netherlands.
出版信息
Hum Genet. 1993 Jun;91(5):504-6. doi: 10.1007/BF00217780.
D13S31 is the marker closest to the Wilson disease locus according to genetic analysis. Its physical localisation was refined by fluorescent in situ hybridisation to the junction to chromosomal bands 13q14.3 and 13q21.1. Using polymerase chain reaction analysis, D13S31 and D13S59 (the closest proximal and distal marker, respectively) were found to be located on the end of the der(13) consisting of 13pter-13q14.3: in the somatic cell hybrid ICD, and to be absent from the cell lines WC-H38B3B6 containing a del(13) (13pter-q13::13q21.1-qter) and KSF39 containing a del(13) (13pter-q14.1:).
根据基因分析，D13S31是最接近威尔逊氏病基因座的标记。通过荧光原位杂交将其物理定位精确到染色体带13q14.3和13q21.1的交界处。使用聚合酶链反应分析发现，D13S31和D13S59（分别是最接近的近端和远端标记）位于由13pter - 13q14.3组成的der(13)末端：在体细胞杂种ICD中，而在含有del(13)（13pter - q13::13q21.1 - qter）的细胞系WC - H38B3B6和含有del(13)（13pter - q14.1:）的KSF39中不存在。
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