高苯丙氨酸血症的分子遗传学研究进展  

Progress in molecular genetics of hyperphenylalanemia

作　　者：宗亚楠 马姗姗[2] 关方霞[2] 孔祥东[1] 

机构地区：[1]郑州大学第一附属医院产前诊断中心,450052 [2]郑州大学生命科学院,450000

出　　处：《国际儿科学杂志》2017年第2期128-131,共4页International Journal of Pediatrics

基　　金：河南省卫生厅科技攻关项目（201403049）

摘　　要：高苯丙氨酸血症是一组常见的遗传代谢病，以血苯丙氨酸浓度增高为特点。苯丙氨酸正常代谢需要苯丙氨酸羟化酶及其辅酶四氢生物蝶呤参与。若编码这些酶的基因出现突变，则会导致苯丙氨酸代谢异常。高苯丙氨酸血症患儿若未及时接受诊治，会出现智能发育落后等严重的神经系统后遗症。随着分子遗传学技术的改进，在高苯丙氨酸血症的基因诊断、基因型临床表型关联性、基因治疗等领域均取得了相应的进展。该文回顾了高苯丙氨酸血症的研究历史、分类，阐述了基因突变特点、基因诊断研究进展，综述了基因型与生化表型关联分析、基因型与BH4反应性分析以及治疗方法的新进展。Hyperphenylalaninemia is a common group of inherited metabolic diseases. It is characterized by the increased concentration of plasma phenylalanine. The metabolism of phenylalanine requires phenylalanine hydroxylase and coenzyme tetrahydrobiopterin. These enzymes cannot function normally if there is any mutation in their encoding genes. Children suffering from hyperphenylalaninemia without promptly treatment may present mental development delay and other serious nervous system sequelae. With the technical improvement of molecular genetics,there have been many progresses in the study of genetic diagnosis, genotype-phenotype correlation and gene therapy of hyperphenylalaninemia. This article reviews the history and classification of hyperphenylalaninemia, the characteristics of gene mutation, the methods of genetic diagnosis, the genotype-phenotype correlation,and the progress of new therapy.

关 键 词：高苯丙氨酸血症 苯丙氨酸羟化酶 分子遗传 基因 

分 类 号：R725.8[医药卫生—儿科]