Børresen A L, Hellerud C, Møller P, Søvik O, Berg K
Department of Medical Genetics, City of Oslo, Norway.
Clin Genet. 1987 Oct;32(4):254-9. doi: 10.1111/j.1399-0004.1987.tb03309.x.
Amniocentesis was performed in a woman who previously had given birth to a boy who died at 12 months of age with a diagnosis of glyceroluria and adrenal insufficiency. A high amount of glycerol (9.0 standard deviations above mean for controls) was found in the amniotic fluid. Enzyme activity of glycerol-kinase (ATP:glycerol-3-phosphotransferase, EC 2.7.1.30) in the cultured amniotic fluid cells was very low. The pregnancy was terminated and a male fetus was aborted. Examinations of DNA isolated from the fetus did demonstrate deletions of two out of 16 DNA probes mapping to the short arm of the X-chromosome. The probes failing to hybridize to DNA from the fetus were C7 (DXS28) and L1.4 (DXS68), both mapping to Xp21.3 and located terminal to the Duchenne locus.
对一名曾生育过一个男孩的女性进行了羊水穿刺检查。该男孩在12个月大时死亡，诊断为甘油尿症和肾上腺功能不全。在羊水中发现了大量甘油（比对照组平均值高9.0个标准差）。培养的羊水细胞中甘油激酶（ATP：甘油-3-磷酸转移酶，EC 2.7.1.30）的酶活性非常低。终止妊娠，流产出一个男性胎儿。对从胎儿分离的DNA进行检查确实证明，在定位到X染色体短臂的16个DNA探针中有两个缺失。未能与胎儿DNA杂交的探针是C7（DXS28）和L1.4（DXS68），二者均定位到Xp21.3，位于杜兴氏基因座的末端。
