Recombinational event between Norrie disease and DXS7 loci
- 1 July 1988
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 34 (1) , 43-47
- https://doi.org/10.1111/j.1399-0004.1988.tb02614.x
Abstract
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.Keywords
This publication has 12 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- Further linkage data on Norrie diseaseAmerican Journal of Medical Genetics, 1987
- Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosomeHuman Genetics, 1985
- Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosisClinical Genetics, 1985
- Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosomeClinical Genetics, 1985
- Report of the committee on the genetic constitution of the X and Y chromosomesCytogenetic and Genome Research, 1985
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1983
- Dominant Exudative Vitreoretinopathy and other Vascular Developmental Disorders of the Peripheral RetinaPublished by Springer Nature ,1982
- Polymorphic DNA region adjacent to the 5' end of the human insulin gene.Proceedings of the National Academy of Sciences, 1981
- Electrophysiological study of norrie's disease: An X-Linked Recessive Trait with Hearing LossInternational Journal of Audiology, 1978