Association between mitochondrial DNA variations and schizophrenia in the northern Chinese Han population.

To determine whether mitochondrial DNA (mtDNA) variations are associated with schizophrenia, 313 patients with schizophrenia and 326 unaffected participants of the northern Chinese Han population were included in a prospective study. Single-nucleotide polymorphisms (SNPs) including C5178A, A10398G, G13708A, and C13928G were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Hypervariable regions I and II (HVSI and HVSII) were analyzed by sequencing.

Mitochondrial DNA control region sequences may differentiate Yanbian Koreans in China from other Asian populations.

Background: Sequence polymorphisms of mitochondrial DNA (mtDNA) are valuable in forensic medicine and anthropological genetics.

Aim: This study investigated the mtDNA control region sequences in 295 unrelated individuals living in the Yanbian Korean Autonomous Prefecture in the People's Republic of China.

Subjects And Methods: DNA was extracted from blood stained filter papers.

Characterization of mitochondrial DNA polymorphisms in the Han population in Liaoning Province, Northeast China.

This study characterized the genetic variations of mitochondrial DNA (mtDNA) to elucidate the maternal genetic structure of Liaoning Han Chinese. A total of 317 blood samples of unrelated individuals were collected for analysis in Liaoning Province. The mtDNA samples were analyzed using two distinct methods: sequencing of the hypervariable sequences I and II (HVSI and HVSII), and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of the coding region.

5-HT1A receptor (HTR1A) 5' region haplotypes significantly affect protein expression in vitro.

The aim of this study was to explore the role of two SNPs (rs6295 & rs113195492) in the HTR1A gene promoter region that regulates the expression of the 5-HT1A receptor. A fragment spanning from -551 to +672 of HTR1A (Transcription start site +1) was cloned into the pGL-3 Basic Vector and three haplotype plasmids composed of two SNPs were constructed. HEK-293 cells and the SK-N-SH cells were transfected with the three plasmids, and the relative fluorescence intensity was measured.