论文部分内容阅读
目的探讨辽宁地区粘多糖贮积症Ⅰ型(MPS-Ⅰ)患者及正常人群中α-L艾杜糖醛酸酶(IDUA)基因的多态性分布情况。方法采用PCR、RFLP和DNA测序的方法检测1999年10月至2002年2月辽宁地区20例MPS-Ⅰ型患儿以及120名正常人群中IDUA基因的多态性分布情况。结果发现辽宁地区MPS-Ⅰ型患儿及正常人群中IDUA基因存在4种多态性位点R105Q、L118、A314和A361T;位于外显子Ⅲ的多态性位点L118在MPS-Ⅰ型患者中的频率为45%,而在正常人群中的频率为18%。结论辽宁地区人群中IDUA基因存在4种多态性位点R105Q、L118、A314和A361T,其中L118在MPS-Ⅰ型患儿和正常人群中出现的频率具有明显的差异。
Objective To investigate the polymorphism of α-L iduronidase (IDUA) gene in mucopolysaccharidosis type I (MPS-Ⅰ) patients and normal population in Liaoning Province. Methods The distribution of IDUA gene polymorphism in 20 MPS-Ⅰ children and 120 normal subjects in Liaoning Province from October 1999 to February 2002 was detected by PCR, RFLP and DNA sequencing. The results showed that there were four polymorphic loci R105Q, L118, A314 and A361T in IDUA gene of Liaoning Province MPS-Ⅰtype and normal population; L118 locus of exon Ⅲ polymorphism locus in MPS-Ⅰtype In the frequency of 45%, while in the normal population frequency of 18%. Conclusions There are four polymorphic loci, R105Q, L118, A314 and A361T, in IDUA gene of Liaoning population. The frequency of L118 in MPS-Ⅰ children and normal population is obviously different.