Bach G, Navon R, Zeigler M, Beyth Y, Porter B, Cohen M M
Isr J Med Sci. 1976 Dec;12(12):1432-9.
The parents of a Jewish Moroccan family, in which a previous child had died of Tay-Sachs disease, both proved to be carriers of the mutant gene. Hexosaminidase A activity in the father was similar to that in Ashkenazic heterozygotes, while the mother showed extremely low hexosaminidase A activity in peripheral leukocytes. Amniocentesis was performed on the mother during a subsequent pregnancy; the fetus proved to be affected and the pregnancy was interrupted. Acrylamide isoelectrofocusing of fetal liver and leukocytes of additional family members revealed a variant mutation for Tay-Sachs disease.
一个摩洛哥犹太家庭，之前有一个孩子死于泰-萨克斯病，该家庭的父母均被证实为突变基因的携带者。父亲的己糖胺酶A活性与德系犹太人杂合子相似，而母亲外周血白细胞中的己糖胺酶A活性极低。在母亲随后的一次怀孕过程中进行了羊水穿刺；结果证实胎儿患病，于是终止了妊娠。对胎儿肝脏以及其他家庭成员白细胞进行丙烯酰胺等电聚焦分析，发现了一种泰-萨克斯病的变异突变。
