Freeth A L, Gibson J B, Wilks A V
Molecular and Population Genetics Group, Research School of Biological Sciences, Autralian National University, Canberra.
Genome. 1990 Dec;33(6):873-7. doi: 10.1139/g90-131.
The DNA sequence of a naturally occurring alcohol dehydrogenase null activity allele, AdhnAC14, has eight extra nucleotides (in two groups of four) in the second intron, commencing six bases 3' from the 5' splice site. A stop codon was also found in exon 2. S1 nuclease protection experiments have shown that the insertions in intron 2 disrupt the correct splicing of intron 2. The null allele produces a transcript approximately 100 bases longer than the normal mature adult transcript, and the amount of the null allele transcript is only about 10% of the normal level.
一种天然存在的无醇脱氢酶活性等位基因AdhnAC14的DNA序列,在第二个内含子中有八个额外的核苷酸(分两组,每组四个),从5'剪接位点的3'端起六个碱基处开始。在第2外显子中也发现了一个终止密码子。S1核酸酶保护实验表明,内含子2中的插入片段破坏了内含子2的正确剪接。该无活性等位基因产生的转录本比正常成熟的成年转录本长约100个碱基,且无活性等位基因转录本的量仅为正常水平的约10%。