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目的探讨易感基因-尿苷二磷酸葡萄糖醛酸基转移酶(UGT1A1)TATA盒的突变与高胆红素血症及不随意运动型脑性瘫痪(脑瘫)发病的相关性,为不随意运动型脑瘫的治疗提供理论根据。方法选取不随意运动型脑瘫41例(A组),高胆红素血症38例(B组),健康对照36例(C组)。分别抽取患儿及健康新生儿外周静脉血2mL,参照试剂盒说明分别提取其基因组DNA。应用聚合酶链反应(PCR)扩增UGT1A1基因,设计UGT1A1基因启动子TATA盒、引物序列,产物片段长度528bp。PCR产物纯化后直接测序找出相应的突变点。结果3组儿童孕龄、体质量、性别及喂养方式均无统计学差异(Pa>0.05);3组基因型分布有统计学差异(P<0.01)。A组41例患儿杂合子A(TA)6TAA/A(TA)7TAA型基因突变占36.6%,B组38例患儿(TA)6/7占15.8%,C组儿童无;而纯合子A(TA)7TAA/A(TA)7TAA型基因突变,A组占2.4%,B、C组均无;A组、B组基因型突变率明显高于C组,A组高于B组。结论易感基因-UGT1A1TATA盒突变与高胆红素血症及不随意运动型脑瘫具有明显相关。
Objective To investigate the relationship between the mutation of the susceptibility gene-UGT1A1 TATA box and the incidence of hyperbilirubinemia and involuntary exercise-induced cerebral palsy (CP). For the purpose of involuntary exercise Cerebral palsy provides the theoretical basis for the treatment. Methods 41 cases of involuntary exercise-induced cerebral palsy (group A), 38 cases of hyperbilirubinemia (group B) and 36 healthy controls (group C). Peripheral blood samples of 2 mL from healthy infants and healthy newborns were drawn respectively and their genomic DNAs were extracted respectively according to the instructions of the kit. The UGT1A1 gene was amplified by polymerase chain reaction (PCR), and the UGT1A1 gene promoter TATA box was designed. The primer sequence and product fragment length were 528bp. PCR products were purified directly sequenced to find the corresponding mutation point. Results There was no significant difference in gestational age, body weight, sex and feeding pattern between the three groups (Pa> 0.05). The distribution of genotypes in the three groups was statistically different (P <0.01). A group of 41 children with heterozygous A (TA) 6TAA / A (TA) 7TAA gene mutation accounted for 36.6%, B group of 38 patients (TA) 6/7 accounted for 15.8%, C group of children without; homozygous A (TA) 7TAA / A (TA) 7TAA gene mutation, A group accounted for 2.4%, B, C group had no; A group, B group genotype mutation rate was significantly higher than C, A group was higher than the B group. Conclusions The mutation of the gene susceptibility gene-UGT1A1TATA has obvious correlation with hyperbilirubinemia and involuntary movement type cerebral palsy.