| 1. | Southern blot can be performed to analyze the expansion of the cgg repeat as well , while the fmrp antibody test allows rapid detection of male patients
Fmrp抗体检测也是诊断脆性x综合征的快捷方法，但是，这几种方法均有一定的局限性。 |
| 2. | Fxs is mainly caused by a kind of dynamic mutation , the expansion of a cgg repeat located in the 5 ' - untranslated region ( 5 ' - utr ) of the fmr1 ( fragile x mental retardation ) gene
该综合症由患者细胞中可见xq27 . 3的脆性位点fraxa而得名。绝大多数脆性x综合征患者的发病是由于fmr1基因5端非翻译区的三核苷酸cgg重复的不稳定扩增所致。 |
| 3. | Therefore in order to detect the carriers in the population and fxs patients with full mutation exactly , it will be very helpful to study the variable distribution of cgg repeats of fmr1 in chinese
准确掌握中国人群中该重复序列的变异分体情况，有助于进一步对脆性x综合征进行前突变和全突变的诊断及对群体中携带者的检出提供有意义的依据。 |
| 4. | Fragile x syndrome ( fxs ) is the most common form of inherited mental retardation after down syndrome . it affects approximately 1 in 4000 males and 1 in 8000 females in the general population
脆性x综合征( fragilexsyndrome ， fxs )是导致遗传性智力低下的主要原因之一，发病率仅次于先天愚型，在男性中的发病率约为1 / 4000 ，在女性中发病率约为1 / 8000 。 |
| 5. | In most affected individuals , cgg repeats are massively expanded over 200 repeats ( full mutation ) and become abnormally h ypermethylated , w hich r esult i n t he s ilence o f t he fmr1 gene
全突变患者cgg重复次数可达n 200 ，其fmr1基因的cgg重复区域本身及其附近的cpg岛发生异常甲基化，引起基因关闭，而fmr1基因产物fmrp的缺乏，导致脆性x综合征。 |
| 6. | It excluded the expansion of cgg repeats in fmr1 gene to be the cause of the 7 patients of the xlmr families . the study on variable distribution of fmr1 cgg repeats in chinese people set up a simple and effective method for screening and gene diagnosis for fxs
通过这一群体调查研究的进行，建立并稳定了对脆性x综合征快速筛查和诊断的简捷方法，并利用此方法对四个家系进行了快速基因诊断，排除7名患者的智力低下病症由fmri基因cgg重复异常扩增所致。 |
