Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.
Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.
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染色体 6p21 上常染色体隐性遗传色素性视网膜炎基因的精细遗传图谱。
DOI：
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发表时间：
1995
影响因子：
9.8
通讯作者：
J. Ott
中科院分区：
文献类型：
--
作者：
Y. Shugart;P. Banerjee;J. Knowles;C. A. Lewis;S. Jacobson;T. Matise;G. Penchaszadeh;T. Gilliam;J. Ott
被称为视网膜色素变性（RP）的遗传性视网膜变性可以由许多不同基因座的突变引起，并且可以作为常染色体隐性、常染色体显性或X连锁隐性性状遗传。据报道，两种常染色体隐性遗传（arRP）与视紫红质基因和染色体4p上视杆磷酸二酯酶β亚基的突变共分离。遗传连锁已被报道在染色体6p和1 q上。在一个大的多米尼加家庭，我们报告了arRp基因附近的外周蛋白/RDS基因的区域。检测到4个重组之间的疾病位点和来自外周蛋白/RDS的基因内标记。参考文献26篇，图2，1个选项卡。
The inherited retinal degenerations known as retinitis pigmentosa (RP) can be caused by mutations at many different loci and can be inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait. Two forms of autosomal recessive (arRP) have been reported to cosegregate with mutations in the rhodopsin gene and the beta-subunit of rod phosphodiesterase on chromosome 4p. Genetic linkage has been reported on chromosomes 6p and 1q. In a large Dominican family, we reported an arRp gene near the region of the peripherin/RDS gene. Four recombinations were detected between the disease locus and an intragenic marker derived from peripherin/RDS. 26 refs., 2 figs., 1 tab.
影响因子：
56.9
作者：
KAJIWARA, K;BERSON, EL;DRYJA, TP
通讯作者：
DRYJA, TP
影响因子：
4.4
作者：
BLANTON, SH;HECKENLIVELY, JR;DAIGER, SP
通讯作者：
DAIGER, SP