Kure S, Tada K
Department of Biochemical Genetics, Tohoku University School of Medicine.
Nihon Rinsho. 1992 Jul;50(7):1530-5.
Prenatal diagnosis of inborn errors of amino acid metabolism was discussed from the viewpoints of its purpose, ethical problems, analysis methods, and sampling methods of the fetal tissues. In addition to the general discussion, our results of the prenatal diagnosis of 20 cases with nonketotic hyperglycinemia (NKH) were also reported. Nineteen cases were diagnosed by the enzymatic method, while one Finnish case was successfully diagnosed by DNA analysis, which is based on our observation that a missense mutation we identified accounts for 70% of the mutant alleles in Finland. The DNA analysis would be a great help for the prenatal diagnosis in Finland where the incidence of NKH is unusually high (1: 12,000 births).
从氨基酸代谢先天性疾病的产前诊断目的、伦理问题、分析方法以及胎儿组织采样方法等方面进行了讨论。除了一般性讨论外，还报告了我们对20例非酮症高甘氨酸血症（NKH）进行产前诊断的结果。19例通过酶法诊断，而1例芬兰病例通过DNA分析成功诊断，这是基于我们的观察，即我们鉴定出的一个错义突变在芬兰占突变等位基因的70%。DNA分析对芬兰的产前诊断将有很大帮助，因为芬兰NKH的发病率异常高（1:12000出生）。
