论文部分内容阅读
目的了解苯丙酮尿症（ｐｈｅｎｙｌｋｅｔｏｎｕｒｉａ，ＰＫＵ）患者智能障碍程度与突变基因性质的关系。方法应用ＰＣＲ－ＡＳＯ及ＰＣＲ－ＳＳＣＰ方法对４５例经典型ＰＫＵ患儿作突变基因检测。对查明基因型的２７例患儿就其智能障碍程度及基因突变性质作一比较。结果苯丙氨酸羟化酶基因型与患儿智能障碍程度缺乏一致性。２７例中仅８例表型与基因型相符，１９例不符。结论苯丙氨酸羟化酶基因突变性质与其表达的酶活性、与治疗前血苯丙氨酸浓度高低相关，但与就诊晚、未经治疗的患儿的智能障碍程度缺乏一致性
Objective To investigate the relationship between the degree of mental retardation and the nature of the mutated gene in patients with phenylketonuria (PKU). Methods PCR-ASO and PCR-SSCP methods were used to detect the mutation of 45 classical PKU patients. Twenty-seven children with identified genotypes were compared for their degree of mental retardation and the nature of the mutation. Results The phenylalanine hydroxylase genotype was not consistent with the degree of mental retardation in children. In the 27 cases, only 8 cases were consistent with the genotypes and 19 cases did not. Conclusion The mutation of phenylalanine hydroxylase gene and the activity of its expression are related to the level of blood PHA before treatment, but it is not consistent with the degree of mental retardation in untreated children