Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult
Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult
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DOI：
10.1136/jmg.33.8.645
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发表时间：
1996-08-01
影响因子：
4
通讯作者：
Yoshino, M
中科院分区：
文献类型：
--
作者：
Matsuda, I;Matsuura, T;Yoshino, M
在5个不同的日本家庭，我们确定了6个男性半合子（年龄6，9，15，17，56，和65岁）和一个假定的候选人（年龄48岁），携带突变等位基因的鸟氨酸转氨甲酰酶（OTC）基因，一个G到A的取代在第2外显子的核苷酸119产生组氨酸的精氨酸的地方。在尸检的肝组织中OTC活性降低至接近对照的12%，并且用Arg40His OTC cDNA转染的COS 1细胞的OTC活性为用野生型OTC cDNA转染的对照的10.2 ± 1.8%。临床特征范围从高氨血症发作期间死亡（9岁）到65岁的无症状man.We认为，这些科目的蛋白质摄入量可能是一个诱发因素，导致这种疾病的表现。
In five different Japanese families, we identified six male hemizygotes (aged 6, 9, 15, 17, 56, and 65 years) and a putative candidate (aged 48 years), carrying a mutant allele of the ornithine transcarbamylase (OTC) gene, a G to A substitution at nucleotide 119 in exon 2 generating histidine in place of arginine. OTC activity in the necropsied Liver tissue was reduced to similar to 12% of the control and that of COS 1 cells transfected with Arg40His OTC cDNA was 10.2 +/- 1.8% of the control transfected with wild type OTC cDNA. Clinical features ranged from death during a hyperammonaemic attack (a 9 year old) to a 65 year old asympto matic man. We consider that the amount of protein ingested by these subjects may be one predisposing factor leading to the manifestation of this disease.