Sidransky E, Tayebi N, Stubblefield B K, Eliason W, Klineburgess A, Pizzolato G P, Cox J N, Porta J, Bottani A, DeLozier-Blanchet C D
National Institute of Mental Health, NIH, Bethesda, MD, USA.
J Med Genet. 1996 Feb;33(2):132-6. doi: 10.1136/jmg.33.2.132.
It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA was present, an affected fetus had virtually no glucocerebrosidase cross reactive material on western analyses. The severe clinical course and pathology observed in these patients resemble that of the null allele Gaucher mouse, and suggest that the absence of glucocerebrosidase activity results in early death.
最近有研究强调，部分2型戈谢病患者会在新生儿期死亡。本报告描述了一个阿富汗家庭，该家庭中有两个胎儿在产前被检测出患有严重的戈谢病。突变分析显示，这个家庭携带一种已知的复合等位基因，其中包括第444位氨基酸L444P、第456位氨基酸A456P和第460位氨基酸V460V的突变。虽然存在葡萄糖脑苷脂酶RNA，但在蛋白质免疫印迹分析中，一名患病胎儿几乎没有葡萄糖脑苷脂酶交叉反应物质。在这些患者中观察到的严重临床病程和病理表现与无效等位基因戈谢病小鼠相似，这表明葡萄糖脑苷脂酶活性的缺失会导致早期死亡。
