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Norrie病是一种X连锁隐性遗传病,临床症状为视网膜发育不良所致的眼盲,继之产生假瘤增生和眼球萎缩,常见智力低下和耳聋。女性携带者无临床症状。以前研究证明,用L1.28探针定位在Xpll.3近侧端的DXS7位点和Norrie病位点之间紧密连锁,LOD计分为9.32,θ=0。最近,Ngo等(1988)观察到Norrie病位点和DXS7位点之间产生一交换事件,LOD最大记分为7.58,重组率为0.038±0.036。de la Chapelle等在3个家庭中对Norrie病受累者用L1.28探针检测出DXS7位点缺失。
Norrie disease is a X-linked recessive genetic disease, clinical symptoms of retinal dysplasia caused by blindness, followed by the generation of pseudotumor hyperplasia and atrophy, common mental retardation and deafness. Female carriers no clinical symptoms. Previous studies have shown that L1.28 probe located in the proximal end of Xpll.3 DXS7 locus and Norrie disease closely linked sites, LOD score 9.32, θ = 0. Recently, Ngo et al. (1988) observed a crossover event between the Norrie disease site and the DXS7 locus with a maximum LOD score of 7.58 and a recombination rate of 0.038 ± 0.036. De la Chapelle et al., in three families, tested for deletion of the DXS7 locus with L1.28 probe in subjects affected by Norrie disease.