ABSTRACT
OBJECTIVES@#To study the association of ventricular septal defect (VSD) with rare variations in the promoter region of HAND2 gene, as well as related molecular mechanisms.@*METHODS@#Blood samples were collected from 349 children with VSD and 345 healthy controls. The target fragments were amplified by polymerase chain reaction and sequenced to identify the rare variation sites in the promoter region of the HAND2 gene. Dual-luciferase reporter assay was used to perform a functional analysis of the variation sites. Electrophoretic mobility shift assay (EMSA) was used to investigate related molecular mechanisms. TRANSFAC and JASPAR databases were used to predict transcription factors.@*RESULTS@#Sequencing revealed that three variation sites (g.173530852A>G, g.173531173A>G, and g.173531213C>G) were only observed in the promoter region of the HAND2 gene in 10 children with VSD, among whom 4 children had only one variation site. The dual-luciferase reporter assay revealed that g.173531213C>G reduced the transcriptional activity of the HAND2 gene promoter. EMSA and transcription factor prediction revealed that g.173531213C>G created a binding site for transcription factor.@*CONCLUSIONS@#The rare variation, g.173531213C>G, in the promoter region of the HAND2 gene participates in the development and progression of VSD possibly by affecting the binding of transcription factors.
Subject(s)
Child , Humans , Base Sequence , Heart Septal Defects, Ventricular/genetics , Polymerase Chain Reaction , Promoter Regions, Genetic , Transcription Factors/geneticsABSTRACT
Objective To assess the current status and factors associated with the mental health condition of older adults. Methods A convenience sampling survey was conducted using symptom check list 90 (SCL-90) among the Chinese older adults aged 60 or above from January to March, 2018. The older adults aged 80 or above were selected for this study. Chi-square test and binary logistic regression model were used to analyze the influencing factors. Results The total participants were 485. The SCL-90 positive detection rate was 20.21%. The symptoms of the four highest detection rates were somatization (39.38%), others (25.15%), obsessive-compulsive symptoms (24.33%) and depression (22.68%). The older adults with normal BMI (OR=0.537, 95% CI: 0.250-0.857, P=0.027) and lived in county town (OR=0.224, 95% CI:0.075-0.667, P=0.007) showed lower SCL-90 positive detection rate. These who had been educated for 1-5 years (OR=11.092, 95% CI: 4.446-27.671, P<0.001), 6-8 years (OR=9.800, 95% CI: 3.464-27.721, P<0.001), 9~11 years (OR=19.279, 95% CI : 6.722-55.297, P<0.001), 12 years and above (OR=24.321, 95% CI: 7.894-74.929, P<0.001) had higher SCL-90 positive detection rate compared with those who were uneducated. Conclusion The mental health condition of Chinese older adults is mainly influenced by residence place, education level, family income self-evaluation and BMI status.
ABSTRACT
Three SNaPshot multiplex assays were developed to test 23 coding region single nucleo-tide polymorphisms (SNPs) and one control region SNP outside hypervariable regions (HVR) Ⅰ and Ⅱ, which was aimed at increasing the discrimination power of the mitochondrial DNA (mtDNA) typing in forensic casework, and confirming haplogroup assignments of mtDNA profiles in both hu-man population studies and medical research. The selected SNPs targeted the East Asian phylogeny. These multiplex assays were validated by comparing with the sequencing analysis of samples chosen randomly. The mtDNA variations of 100 unrelated individuals from the Wuhan population in China were examined and classified into 3 i haplotypes, and the haplotype diversity was estimated to be 0.952. The multiplex SNaPshot method is rapid and robust, and suitable for large-scale screening studies of mtDNA variability.