摘要针对IDS基因具有高发突变和高度遗传异质性的现象,从遗传学角度分析其产生的可能机制,指出:种族、民族的差异,IDS基因结构及其所编码的酶蛋白结构的特殊性,基因所在X染色体的结构的特殊性(含脆性部位)和X染色体的随机失活,突变热点、假基因、隐蔽性拼接位点、indel的存在,以及配子形成过程中复制、修复或交换过程中出现的差错,都可能是导致其高发突变和产生高度遗传异质性的遗传基础.

abstractsAccording to the fact that IDS gene has a high mutation rate and a high genetic heterogeneity,we analyzed its probable mechanism and drew the following conclusion:races,nationalities differences,the particularity of IDS gene structures and the enzyme structures ceded by IDS gene,the particularity of the structures of the X chromosome carrying IDS gene (containing fragile sites),random inactivation of X chromosome,the existence of mutation hotspots,pseudogenes,cryptic splice-sites and indel,and the errors in replication,repairing,or exchanging during the process of gametogenesis,all the above factors can be the genetic basis of the high mutation rate and the high genetic heterogeneity of IDS gene.