FMR-1 gene mutation of the fragile X syndrome were analyzed by non-isotope PCR and Southern blot hybridization.;
非同位素PCR及Southern印迹杂交分析检测脆性X综合征FMR-1基因突变
The amplification of the FMR-1 gene with high GC contents.;
高GC含量FMR-1基因的PCR扩增
Result: There were 14 FMR-1 gene carries (male 2 and female 12) and 9 affected cases in 253 congenital mental retard cases which were un.
方法应用复式PCR一次性扩增FMR-1基因的(CGG)n的重复区,检测CGG重复序列的大小,分析FMR-1基因状态:正常、前突变、全突变,对脆性X综合征可疑患儿进行快速筛查。