五个典型常染色体显性遗传性视网膜色素变性家系的连锁分析
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.
作者信息
Field L L, Heckenlively J R, Sparkes R S, Garcia C A, Farson C, Zedalis D, Sparkes M C, Crist M, Tideman S, Spence M A
出版信息
J Med Genet. 1982 Aug;19(4):266-70. doi: 10.1136/jmg.19.4.266.
Abstract
Five pedigrees (including an expanded version of a previously reported pedigree) exhibited typical autosomal dominant retinitis pigmentosa were analysed for linkage of RP to 29 genetic markers. No significant lod scores resulted. The largest lod score is +1.51 and suggests linkage between RP and Rh blood group at an estimated recombination fraction of 20% in males and 40% in females. Further studies are needed to confirm or refute this suggested linkage.
摘要
对五个呈现典型常染色体显性遗传性视网膜色素变性的谱系（包括一个先前报道谱系的扩展版本）进行分析，以研究视网膜色素变性（RP）与29个遗传标记的连锁关系。未得到显著的连锁值。最大的连锁值为 +1.51，表明在男性中估计重组率为20%、女性中为40%时，RP与Rh血型之间存在连锁关系。需要进一步研究来证实或否定这种推测的连锁关系。
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