Iwasawa K, Ida H, Eto Y
Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
Acta Paediatr Jpn. 1997 Aug;39(4):451-3. doi: 10.1111/j.1442-200x.1997.tb03616.x.
Gaucher disease (GD) can be caused by any of over 50 mutations of the gene of glucocerebrosidase (D-glucosyl acylsphingosine glucohydrolase; EC 3.2.1.45). The 1448T to C mutation is found among all ethnic groups. In Ashkenazi Jews, the patients who are homozygous for the 1448C mutation are associated with the neuropathic form of the disease, but this is not the case in Japanese patients. This present study was the analysis of the two haplotypes, the Pv1.1 and the liver/erythrocytes pyruvate kinase (PKLR), in Japanese GD patients who were homo- or heterozygous for the 1448C mutation, and comparison of the results with other ethnic patients with the same genotypes in order to show ethnic differences. Of 28 patients, 20 had type I disease (7 were homozygous for the 1448C), five had type II (1 was homozygous) and 3 had type III (all were heterozygous). In Japanese GD patients with the 1448C mutation, the two haplotypes showed complete matching in (+) or (-). The Pv1.1/PKLR(+) alleles accounted for 84.0% and this frequency was opposite to that reported in Ashkenazi Jews and other Caucasians. The 1448C homozygous state showed no obvious linkage with either of the haplotypes. From this haplotype analysis, it is postulated that the origin of the 1448C mutation in Japanese GD patients is different from that reported in other ethnic groups.
戈谢病（GD）可由葡糖脑苷脂酶基因（D-葡萄糖基神经酰胺葡萄糖水解酶；EC 3.2.1.45）的50多种突变中的任何一种引起。1448T到C的突变在所有种族中都有发现。在德系犹太人中，1448C突变纯合的患者与该疾病的神经病变形式相关，但在日本患者中并非如此。本研究分析了1448C突变纯合或杂合的日本GD患者的两种单倍型，即Pv1.1和肝/红细胞丙酮酸激酶（PKLR），并将结果与其他具有相同基因型的种族患者进行比较，以显示种族差异。28例患者中，20例为I型疾病（7例为1448C纯合），5例为II型（1例为纯合），3例为III型（均为杂合）。在具有1448C突变的日本GD患者中，两种单倍型在（+）或（-）中显示完全匹配。Pv1.1/PKLR（+）等位基因占84.0%，该频率与德系犹太人和其他白种人报道的频率相反。1448C纯合状态与任何一种单倍型均无明显连锁。通过这种单倍型分析，推测日本GD患者中1448C突变的起源与其他种族报道的不同。
