半乳糖血症的产前诊断。
Prenatal diagnosis of galactosaemia.
作者信息
Fensom A H, Benson P F, Blunt S
出版信息
Br Med J. 1974 Nov 16;4(5941):386-7. doi: 10.1136/bmj.4.5941.386.
Abstract
We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-galactose produced from (14)C-galactose 1-phosphate detected the homozygous mutant fetus.
摘要
我们监测了两个有半乳糖血症风险家庭的孕期情况。其中一个胎儿被诊断为患有半乳糖血症，另一个则未受影响。预测的准确性在产后得到了证实。涉及辅酶NAD或NADP还原的1-磷酸半乳糖尿苷酰转移酶检测方法不适用于羊水细胞，而对由1-磷酸半乳糖产生的（14）C-UDP-半乳糖的测定则检测出了纯合突变胎儿。
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本文引用的文献
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