摘要
目的检测秦巴山区脆性X综合征儿童。方法利用分子生物学技术，对秦巴山区0～14岁智力低下儿童FMR1基因CpG岛甲基化与CGG重复多态性进行检测。结果在56名智力低下男童中，检测出了3例FMR1基因甲基化但CGG重复数在正常范围的患者。对此3例患者及其家系人群体征检查观察到部分成员有脆性X综合征体征；此外，检测的智力低下和对照儿童FMR1基因CGG重复数均在正常范围（分别为16—40，18～37），两组无统计学差异（X^2=29．55，P=0．102）。结论检测出的3例智力低下患者有可能是FMR1基因发生了甲基化而CGG重复数正常的脆性X综合征患者，相对于CGG异常扩增而言，FMR1基因甲基化可能是形成该病症的重要原因。
Aim To observe the fragile X syndrome （fraX） children in Qinba mountain area. Methods The methylation-sensitive restriction endomucleasea（MSRE） and PCR technique were used to test the CpG island meth- ylation and CGG repeats in FMR1 gene of the male Mental Retardation （MR） children aged 0 to 14. Results There were three FMR1 gene methylated hut CGG repeat normal children were observed among 56 male MR chil- dren. The signs of fraX were observed among these three MR children and the members of their pedigrees by physi- cal examination. Furthermore, the CGG repeats number in FMR1 gene of MR children and the control group were normal（ 16 -40,18 -37 respectively） and no significant difference（X^2 =29. 55 ,P =0. 102） between them. Conclusion These three MR children maybe with fraX whose FMR1 gene methylated and CGG repeat normal. Relatively to the expansion of CGG repeats, the methylation in FMR1 gene maybe is the key cause for fraX.
出处
《西北大学学报（自然科学版）》
CAS
CSCD
北大核心
2009年第2期251-254,共4页
Journal of Northwest University（Natural Science Edition）
基金
国家"973"计划前期研究专项课题基金资助项目(2007CB516702)
国家自然科学基金资助项目(30470577
30771182)
陕西省自然科学基金资助项目(2005C115)
