Hill D F, Chapman C J, Gardner R J
Department of Biochemistry, University of Otago, Dunedin.
N Z Med J. 1987 Mar 25;100(820):166-8.
We report a family with the X-linked eye disorder Norrie's disease, in which DNA analysis enabled the distinction to be made between female carriers and non carriers. There was perfect cosegregation of the disease gene and the restriction fragment length polymorphism DXS7 which is recognised by the probe L1.28. Adding our data to those already on record, the lod score for linkage between DXS7 and Norrie's disease reaches 5.6, for a recombination fraction of 0.0. We anticipate that DNA testing will become a major investigative tool in genetic counselling.
我们报告了一个患有X连锁眼病——诺里病的家族，通过DNA分析能够区分女性携带者和非携带者。疾病基因与限制性片段长度多态性DXS7完全共分离，DXS7可被探针L1.28识别。将我们的数据与已记录的数据相加，DXS7与诺里病之间连锁的lod分数达到5.6，重组率为0.0。我们预计DNA检测将成为遗传咨询中的一项主要检测工具。
