Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+).@*METHODS@#Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members.@*RESULTS@#The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%.@*CONCLUSION@#The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.

The expression of surfactant protein genes hyperoxia-induced neonatal rat lung injury / 重庆医科大学学报

Objective:To observe the effects of hyperoxiaon the changes of pulmonary histology and surfactant protein gene expression.Methods:SD newborns which less than 6 h old were randomly divided into 2 groups:normal air control group and hyperoxia group.The lungs of rats were removed at the time points 1,4,7,14 d,histopathological changes of the lung tissues were examined by HE staining and the lung factor were calculated(lung weight/body weight ?100%);the expression of all surfactant protein genes were detected by semi-quantitative reverse transcription-polymerase chain reaction(RT-PCR).Results:To compare with corresponding air control group,in hyperoxia group,the body weight is significantly deceased after 14 days of hyperoxia exposure(P0.05),and began to significantly decreased at 14 d(P