Zhu D P, Antonarakis S E, Schmeckpeper B J, Diergaarde P J, Greb A E, Maumenee I H
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Baltimore, MD 21205.
Am J Med Genet. 1989 Aug;33(4):485-8. doi: 10.1002/ajmg.1320330415.
We have studied a three-generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28-p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated that the male fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months.
我们研究了一个患有诺里病的三代家族，并对一名必然携带者的胎儿进行了产前诊断。在患病男性中检测到由探针L1.28、L1.28 - p59和pX59定义的DXS7和DXS77位点的缺失。对绒毛膜绒毛活检材料的DNA研究表明，男性胎儿从携带者母亲那里继承了正常等位基因。这一预测在5个月大时的眼部检查中得到了证实。
