A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
复制标题
鸟氨酸转氨酶基因剪接受体位点的单碱基变化会导致脑回萎缩中 RNA 剪接异常。
DOI：
10.1007/bf00220086
复制
发表时间：
1992
期刊：
影响因子：
5.3
通讯作者：
Inana,G
中科院分区：
文献类型：
--
作者：
Mashima,Y;Weleber,RG;Kennaway,NG;Inana,G
Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. Two sisters with GA are described in this study in whom an A-to-G substitution at the 3′ splice acceptor site of intron 4 in one allele of the OAT gene results in a truncated OAT mRNA devoid of exon 5 sequence. The mutation in the other allele was identified to be a missense mutation at codon 318 by denaturing gradient gel electrophoresis and direct sequencing of the polymerase chain reaction (PCR)-amplified DNA. Thus, these GA patients are compound heterozygotes with respect to mutations in the OAT gene that result in inactivation of OAT.
