| 1. | The study on correlativity between mental retardation and chromosome fragile site
精神发育迟滞者与染色体脆性部位相关性的研究 |
| 2. | Objective : to explore the correlatitiy between mental retardation , chromosome aberrtion rate and fragile site expression rate
目的：探讨精神发育迟滞者与染色体畸变率和脆性部位表达率的相关性。 |
| 3. | Conclusion : the mental retardation is correlative with the chromosome aberration and the fragile site expression rate
结论：提示精神发育迟滞与染色体的畸变率和脆性部位的表达率有一定的相关性。 |
| 4. | Other mutations of the fmr1 gene , s uch a s d eletions a nd p oint m utations a mong p atients w ith usual phenotype but without fragile site expression , are also identified
另外，在少数患者中还检测到fmr1基因的其它突变，如基因全部或部分的缺失和发生在fmr1基因内部的点突变。 |
| 5. | To detect the patients and carriers of the fragile x syndrome , various analytic methods could be used . one is cytogenetic diagnosis to observe the expression of the fragile site fraxa located at xq27 . 3
对脆x综合征的诊断，可以通过细胞遗传学方法观察分析x染色体相应脆性位点的表达情况，或是通过southern印迹杂交的方法直接分析cgg重复的扩增突变。 |
| 6. | Methods : using the peripheral blood lymphocyte chromosome preparation technique and fragile site technique , to analyze chromosome aberrtion rate and fragile site expression rate of 30 cases of mental retardation sufferer and 30 cases of normal person respectively
方法：采用外周血淋巴细胞染色[摘要]目的：探讨精神发育迟滞者与染色体畸变率和脆性部位表达率的相关性。 |
| 7. | About the control group , the chromosome aberration rate of is 1 . 55 % ; the fragile site expression rate is 0 . 89 % . both the chromosome aberration rate and the fragile site expression rate of two groups are distinct from each other ( p 0 . 01 )
结果：精神发育迟滞者染色体的畸变率为4 . 32 ，脆性部位的表达率为2 . 18 % ，而正常对照组染色体畸变率为1 . 55 ，脆性部位的表达率为0 . 89 ，两者的染色体畸变率和脆性部位表达率有明显的差异( p 0 . 01 ) 。 |
| 8. | Fxs is characterized by x - linked mental retardation with additional features such as a long face with large protruding ears , macroorchidism , and eye - gaze avoidance etc . fxs is associated with a fragile site , designated fraxa ( fragile site , x chromosome , a site ) , at xq27 . 3 near the end of the long arm
其主要临床特征为智力低下、特殊的外貌特征(包括长脸、大耳廓、下颌突出、巨头、腭弓高、大睾丸等) 、行为及认知障碍、多动、注意力难集中以及孤独、自闭等症状。 |
