Cardoso M L, Martins E, Vasconcelos R, Vilarinho L, Rocha J
Unidade de Biologia Clínica, Instituto de Genética Médica (IGM), Porto, Portugal.
Hum Mutat. 1999 Oct;14(4):355-6. doi: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I.
Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from Madeira Island) we performed a DNA sequence analysis of all the exons and exon/intron boundaries of the liver-type arginase gene (ARG1). All patients were found to be homozygous for a newly identified C ->T transition in codon 21 (exon 2) substituting arginine for a premature stop codon (R21X: CGA to TGA) and generating a NlaIII restriction site. Restriction digestion following PCR amplification of ARG1 exon 2 confirmed the presence of the mutation.
精氨酸血症是一种罕见的常染色体隐性疾病，由胞质肝型精氨酸酶（L-精氨酸尿素水解酶；E.C. 3.5.3.1）缺乏引起。为了研究4名无亲缘关系的葡萄牙患者（2名来自葡萄牙北部，2名来自马德拉岛）精氨酸血症的分子基础，我们对肝型精氨酸酶基因（ARG1）的所有外显子以及外显子/内含子边界进行了DNA序列分析。所有患者在密码子21（外显子2）处均发现一个新鉴定的C→T转换，导致精氨酸被过早终止密码子取代（R21X：CGA变为TGA），并产生一个NlaIII限制性位点。对ARG1外显子2进行PCR扩增后进行限制性酶切，证实了该突变的存在。
