DIGENIC RETINITIS-PIGMENTOSA DUE TO MUTATIONS AT THE UNLINKED PERIPHERIN/RDS AND ROM1 LOCI
DIGENIC RETINITIS-PIGMENTOSA DUE TO MUTATIONS AT THE UNLINKED PERIPHERIN/RDS AND ROM1 LOCI
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DOI：
10.1126/science.8202715
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发表时间：
1994-06-10
期刊：
影响因子：
56.9
通讯作者：
DRYJA, TP
中科院分区：
文献类型：
--
作者：
KAJIWARA, K;BERSON, EL;DRYJA, TP
尽管最近在鉴定引起单基因人类疾病的基因方面取得了进展，但对涉及多基因疾病的基因知之甚少。三个家庭被确定与突变的非连锁的光感受器特异性基因ROM 1和peripherin/RDS，其中只有双杂合子发展视网膜色素变性（RP）。这些研究结果表明，等位基因和非等位基因的异质性已知是一个功能的单基因RP是复杂的非连锁突变之间的相互作用，导致双基因RP。识别这三个家族的遗传模式可能有助于识别人类疾病中双基因遗传的其他例子。
In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked mutations causing digenic RP. Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease.