论文部分内容阅读
本实验对131例15岁以下儿童进行脆性部位的检查。其中81例智力低下患儿,50例健康儿童。细胞遗传学研究发现1例脆性X染色体阳性的MR患儿,其余受检儿童均为正常核型染色体。但外周血淋巴细胞经低叶酸培养时,MR组表现出染色体总断裂明显高于对照组。3p14的携带比例与表现频率在两组间有显著差异,且在MR组3p14与染色体总断裂间呈正相关。
The experiment of 131 cases of children under 15 years of fragile parts of the inspection. 81 cases of mental retardation in children, 50 healthy children. Cytogenetics study found that 1 case of fragile X chromosome-positive MR children, and the remaining subjects were normal karyotype chromosome. However, when the peripheral blood lymphocytes were cultured with low folate, MR group showed the total chromosome rupture was significantly higher than the control group. The carrying rate and frequency of 3p14 were significantly different between the two groups, and there was a positive correlation between 3p14 and total chromosome rupture in MR group.