Recombinational event between Norrie disease and DXS7 loci.
Recombinational event between Norrie disease and DXS7 loci.
复制标题
诺里病和 DXS7 基因座之间的重组事件。
DOI：
10.1111/j.1399-0004.1988.tb02614.x
复制
发表时间：
1988
影响因子：
3.5
通讯作者：
Bateman,JB
中科院分区：
文献类型：
--
作者：
Ngo,JT;Spence,MA;Cortessis,V;Sparkes,RS;Bateman,JB
我们已经确定了一个X连锁隐性诺里病的家庭，其中一个重组事件发生在疾病位点和DXS7位点之间，由探针L1.28确定。除了我们的家庭带来的总发表的信息的家庭7，最大的LOD得分为7.58，在0.038 pL 0.036的重组频率。这一发现表明，L1.28探针是有用的，但可能不是完全可靠的产前诊断和诺里病的基因是不是在DNA序列中确定的L1.28探针。
We have identified a family affected with X‐linked recessive Norrie disease, in which a recombinational event occurred between the disease locus and the DXS7 locus identified by the probe L1.28. The addition of our family brings the total of published informative families to seven, with a maximum lod score of 7.58 at a recombination frequency of 0.038 pL 0.036. This finding indicates that the L1.28 probe is useful but may not be completely reliable for prenatal diagnosis and that the gene for Norrie disease is not within the DNA sequence identified by the L1.28 probe.