Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn...Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and in fluence its course. Methods: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age mean± SD : 38.3± 1.2 completed weeks; birthweight: 3088± 426 g), 57 neonates with RDS (gestational age: 29.6 ± 3.5 completed weeks; birthweight: 1272 ± 638 g), and 50 healthy controls were enrolled prospectively. Results: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. Conclusion: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.展开更多
文摘Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and in fluence its course. Methods: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age mean± SD : 38.3± 1.2 completed weeks; birthweight: 3088± 426 g), 57 neonates with RDS (gestational age: 29.6 ± 3.5 completed weeks; birthweight: 1272 ± 638 g), and 50 healthy controls were enrolled prospectively. Results: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. Conclusion: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.
文摘发作性共济失调(episodic ataxia,EA)是一类少见的常染色体显性遗传病。可分为以下几类:①发作性共济失调1型(EA1),发作性共济失调伴肌纤维颤搐(EA／myokymia),是由位于12p13上编码电压门控钾离子通道kv1.1α亚单位的基因KCNA1突变引起的。②发作性共济失调2型(EA2),发作性共济失调伴眼球震颤(EA2／nystagmus),是由于编码P／Q型钙离子通道Cav2.1α,亚单位的基因CAC-NA1A突变造成的,突变位于19p13上。③阵发性舞蹈手足徐动症伴发作性共济失调(paroxysmalchoreoathetosis with episodic ataxia),基因定位于1p上,与钾离子通道有关。
