Sahota A, Chen J, Stambrook P J, Tischfield J A
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202.
Adv Exp Med Biol. 1991;309B:73-6. doi: 10.1007/978-1-4615-7703-4_16.
The mutational basis of APRT deficiency was studied in non-Japanese and Japanese patients. Fifteen different mutations have been identified altogether. Of these 4 were common, 6 were located in exon 3, and two at the exon 4-intron 4 junction. The common mutations were a missense mutation in exon 3 (asp65----val) and a T insertion at the exon 4-intron 4 junction in non-Japanese patients, a nonsense mutation in exon 3 (trp98----end) in Type I Japanese patients, and an exon 5 missense mutation (met136----thr) in Type II patients. The other mutations in Type I patients consisted mainly of single base changes and small deletions.
对非日本和日本患者的腺嘌呤磷酸核糖转移酶（APRT）缺乏症的突变基础进行了研究。总共鉴定出15种不同的突变。其中4种是常见的，6种位于外显子3，2种位于外显子4 - 内含子4交界处。常见突变在非日本患者中是外显子3的错义突变（asp65→val）和外显子4 - 内含子4交界处的T插入，在I型日本患者中是外显子3的无义突变（trp98→终止），在II型患者中是外显子5的错义突变（met136→thr）。I型患者中的其他突变主要由单碱基变化和小缺失组成。
