鸟氨酸转氨甲酰酶基因第5外显子中C到T的替换导致鸟氨酸转氨甲酰酶缺乏症。

Hata A, Setoyama C, Shimada K, Takeda E, Kuroda Y, Akaboshi I, Matsuda I

Department of Biochemistry, Kumamoto University Medical School, Japan.

Am J Hum Genet. 1989 Jul;45(1):123-7.

To define the molecular basis for the TaqI site alteration in the ornithine transcarbamylase (OTC) (E.C.2.1.3.3) gene of a female patient with mild OTC deficiency, we used a combination of genomic amplification followed by direct sequencing and oligodeoxyribonucleotide hybridization. We obtained evidence for a C-to-T substitution in exon 5 (codon 141) of this gene. This mutation generates a stop codon, in place of Arg, at amino acid 109 of the mature OTC protein. The mutation arose, de novo, in a germ cell of one of the parents.

为了确定一名患有轻度鸟氨酸转氨甲酰酶（OTC）（E.C.2.1.3.3）缺乏症的女性患者OTC基因中TaqI位点改变的分子基础，我们采用了基因组扩增、直接测序和寡脱氧核糖核苷酸杂交相结合的方法。我们获得了该基因第5外显子（密码子141）中C到T替换的证据。这种突变在成熟OTC蛋白的第109位氨基酸处产生了一个终止密码子，取代了精氨酸。该突变是在父母一方的生殖细胞中新生的。