Qu Y, Abdenur J E, Eng C M, Desnick R J
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.
Prenat Diagn. 1996 Apr;16(4):333-6. doi: 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G.
Glycogen storage disease type Ia (GSD Ia, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of D-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for prenatal diagnosis. The recent isolation of the G6Pase gene and identification of several disease-causing mutations have permitted molecular prenatal diagnosis using amniocytes or chorionic villi. Chorionic villus sampling (CVS) was performed in an Ashkenazi Jewish family in whom a previous child was homoallelic and both parents were heterozygous for the R83C mutation. Molecular analysis revealed that the fetus was not affected. The prenatal diagnosis was confirmed postnatally by biochemical and molecular studies. Thus, the molecular prenatal diagnosis of GSD type Ia can be safely and accurately made in the first trimester.
糖原贮积病Ia型（GSD Ia，冯·吉尔克病）是一种常染色体隐性遗传的先天性代谢缺陷病，由D - 葡萄糖 - 6 - 磷酸酶（G6Pase）缺乏引起。由于这种酶主要在肝细胞中表达，有Ia型糖原贮积病风险的夫妇过去依靠胎儿肝脏活检进行产前诊断。最近G6Pase基因的分离以及几种致病突变的鉴定使得利用羊水细胞或绒毛膜绒毛进行分子产前诊断成为可能。在一个阿什肯纳兹犹太家庭中进行了绒毛取样（CVS），该家庭中之前的一个孩子为R83C突变的纯合等位基因，父母双方均为杂合子。分子分析显示胎儿未受影响。产后通过生化和分子研究证实了产前诊断。因此，Ia型糖原贮积病的分子产前诊断可以在孕早期安全、准确地进行。
