将威尔逊氏病基因座定位到13号染色体上一组连锁的多态性标记物。
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.
作者信息
Bowcock A M, Farrer L A, Cavalli-Sforza L L, Hebert J M, Kidd K K, Frydman M, Bonne-Tamir B
出版信息
Am J Hum Genet. 1987 Jul;41(1):27-35.
Abstract
Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds. The single-copy probe 7D2, identifying the polymorphic region D13S10, was demonstrated to lie 7.5 centiMorgans (cM) from the locus, since a maximum lod score of 4.66 at a recombination frequency of .07 (7.5 cM) was found between the locus for WD (WND) and D13S10. Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.
摘要
在五个中东家族中，研究了13号染色体上的几个DNA标记以及红细胞酶酯酶D（ESD）基因座与威尔逊病（WD）的连锁关系。威尔逊病是一种影响铜代谢的常染色体隐性疾病。单拷贝探针7D2可识别多态性区域D13S10，该探针被证明位于距该基因座7.5厘摩（cM）处，因为在WD基因座（WND）和D13S10之间，在重组频率为0.07（7.5 cM）时发现最大对数优势得分为4.66。对13号染色体上的几个标记和WND进行多点连锁分析，使我们能够提出与WND紧密连锁的标记顺序如下：着丝粒-D13S10-ESD-WND。
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