1例粘多糖病ⅣA型儿童GALNS基因突变分析  

Analysis of GALNS gene mutation in 1 case of child with mucopolysaccharidosis Ⅳ A type

作　　者：王成礼[1] 阴怀清[1] 石岩[1] 潘丽丽[1] 王凤娇[1] 李素仙[1] 李伟[1] 

机构地区：[1]山西医科大学第一医院儿科,山西太原030001

出　　处：《中国当代医药》2013年第15期9-10,13,共3页China Modern Medicine

摘　　要：目的研究1例粘多糖病ⅣA型(mucopolysaccharidosis ⅣA,Morquio A,MPS ⅣA)患者的临床特点及N-乙酰半乳糖胺-6-硫酸酯酶(GALNS)基因的突变。方法研究对象为1例散发粘多糖病ⅣA型患儿及50例正常儿童。分别取其外周血5mL,提取DNA,应用聚合酶链式反应(PCR)扩增GALNS基因的全部14个外显子,应用正反引物对PCR产物进行基因序列直接测序。结果该患儿未发现GALNS基因致病突变。但是检测出2个GALNS基因多态性1431A>G、1569+36A>G。结论 GALNS基因突变不是本研究中1例散发MPSⅣA患儿的主要致病原因。Objective To study the clinical characteristics and N-acetylgalactosamine-6-sulfatase （GALNS） gene mu- tation of 1 child patient with mucopolysaccharidosis IVA type （Morquio A, MPS IV A）. Methods The study object was 1 child patient with mucopolysaccharidosis 1V A type and 50 normal children. Their peripheral blood （5 mL） was re- spectively collected for DNA extraction. All the 14 exons of GALNS gene were amplified by using polymerase chain reaction （PCR）. The gene sequence of PCR products were directly detected by sense and antisense primers. Results No gene mutation was found in this child patient, but two GALNS gene polymorphism, 1431A〉G and 1569＋36A〉G. Conclusion GALNS gene mutation is not the main pathogenesis of this sporadic child patient with mucopolysacchari- dosis IVA type in this study.

关 键 词：粘多糖病ⅣA型 GALNS基因 突变 分析 

分 类 号：R681.1[医药卫生—骨科学]