Gal A, Uhlhaas S, Glaser D, Grimm T
Institut für Humangenetik der Universität in Bonn, Federal Republic of Germany.
Am J Med Genet. 1988 Oct;31(2):449-53. doi: 10.1002/ajmg.1320310225.
Three polymorphic DNA markers linked to the locus of Norrie disease were used for indirect genotype analysis in a ten-wk-old fetus at risk for the disease. When haplotypes of the family members and the estimated recombination frequency between Norrie gene and each of the DNA marker loci DXS7, DXS84, and DXS146 were taken into account, the risk that the fetus had inherited the mutation was about 1%.
三个与诺里病基因座连锁的多态性DNA标记用于对一名有患病风险的10周龄胎儿进行间接基因型分析。考虑到家庭成员的单倍型以及诺里基因与每个DNA标记位点DXS7、DXS84和DXS146之间的估计重组频率，胎儿遗传该突变的风险约为1%。
