Hwu W L, Tsai L P, Wang W C, Chuang S C, Wang P J, Wang T R
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, ROC.
Hum Genet. 1996 Feb;97(2):148-9. doi: 10.1007/BF02265256.
Arylsulfatase A (ASA) pseudodeficiency was found to be much rarer in Taiwan than in most western countries (2.5% versus 7.3%-20% carrier rate). The linkage of two mutations (A2725G and A1788G) in the pseudodeficiency allele was preserved in Chinese, and A2725G did not occur alone. This unusual linkage of mutations has not been fully explained previously because the frequency of A2725G alone was not clear (as low as 4% in the only report). However, A1788G was found in 55 of 160 (34.4%) DNA samples tested in this study. These data suggest that the A2725G mutation occurred in DNA that already contained the A1788G change, at an ancient time in one of our common ancestors.
在台湾，芳基硫酸酯酶A（ASA）假缺陷的发生率比大多数西方国家要低得多（携带率分别为2.5%和7.3%-20%）。假缺陷等位基因中的两个突变（A2725G和A1788G）在中国人群中保持连锁状态，且A2725G不会单独出现。此前，这种不寻常的突变连锁现象尚未得到充分解释，因为单独出现A2725G的频率尚不清楚（唯一的报告显示该频率低至4%）。然而，在本研究检测的160个DNA样本中，有55个（34.4%）发现了A1788G。这些数据表明，A2725G突变发生在已含有A1788G变化的DNA中，这发生在我们共同祖先的某个远古时期。
