Partial hypoxanthine-guanine phosphoribosyl transferease deficiency in two Korean siblings—a new mutation
Partial hypoxanthine-guanine phosphoribosyl transferease deficiency in two Korean siblings—a new mutation
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两个韩国兄弟姐妹的部分次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺陷——一种新突变
DOI：
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发表时间：
1993
期刊：
影响因子：
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通讯作者：
N. Ogasawara
中科院分区：
文献类型：
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作者：
Yong Choi;J. Koo;I. Ha;Yasukazu Yamada;H. Goto;N. Ogasawara
报告两个患有部分低氧鸟嘌呤磷酸核糖基转移酶(HPRT)缺乏症的朝鲜族同胞。指标患者是一名9岁10个月的男孩，他在呕吐后出现急性肾功能衰竭，血尿酸水平为25.9 mg/dl。弟弟没有症状，但血尿酸升高(9.4 mg/dl)。两个兄弟姐妹的红细胞HPRT活性都是正常的十分之一。基因组DNA分析显示，在外显子3的第215位核苷酸上，存在由A(腺嘌呤)到G(鸟嘌呤)的点突变，这是一个新的突变。弟弟有相同的突变，母亲是该突变的杂合子。
Two Korean siblings with partial hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency are reported. The index patient was a boy aged 9 years 10 months who developed acute renal failure with a serum uric acid level of 25.9 mg/dl, after vomiting. The younger brother was asymptomatic but had elevated serum uric acid (9.4 mg/dl). The red blood cell HPRT activity of both siblings was one-tenth of normal. Analysis of genomic DNA revealed a point mutation from A (adenine) to G (guanine) at nucleotide position 215 on exon 3; this is a new mutation. The younger brother had the same mutation and the mother was heterozygous for this mutation.
HPRT 缺陷的分子遗传学。
影响因子：
3.3
作者：
Caskey,CT;Stout,JT
通讯作者：
Stout,JT