ABSTRACT
Recently, 5 novel X-chromosome short tandem repeat (X-STR) loci with high degrees of polymorphism were examined. In this study, we investigated the genetic distribution of these loci in a Chinese Han population. The 5 X-STR loci were successfully examined by polyacrylamide gel electrophoresis in a total of 200 unrelated Shaanxi Han individuals (100 males and 100 females). Hardy-Weinberg equilibrium tests revealed no significant deviation from expected values (P > 0.05) for all 5 X-STR loci in the Shaanxi Han population.The loci were named DXS-p11.3, DXS-q12, DXS-q13.3, DXS-q22.1, and DXS-q25 and were found to contain 6, 8, 7, 7, and 5 alleles, respectively. In addition, 17, 21, 18, 19, and 11 genotypes, respectively, were detected in the female samples. The heterozygosities of the 5 X-STR loci were 0.75, 0.74, 0.74, 0.72, and 0.56, respectively. The polymorphic information contents of the 5 X-STR loci were 0.70, 0.69, 0.69, 0.68, and 0.51, respectively. The individual discrimination values of the 5 X-STR loci were 0.88, 0.86, 0.88, 0.87, and 0.74, respectively. Five new X-chromosome STR loci with high degrees of polymorphism were observed in our lab. The results of this study are important for forensic individual identification, paternity identification, and population genetics research.
Subject(s)
Asian People/genetics , Chromosomes, Human, X/genetics , Microsatellite Repeats/genetics , Polymorphism, Genetic/genetics , Alleles , Electrophoresis, Polyacrylamide Gel , Female , Genetics, Population , Genotype , Heterozygote , Humans , MaleABSTRACT
Recent studies indicate the involvement of dopamine receptors D1 and D3 in the regulation of locomotor stimulant and conditioned responses to morphine in mice. Moreover, expression of brain-derived neurotrophic factor (BDNF) may be modulated by D1 and D3 receptor activities in the nucleus accumbens (NAc) and prefrontal cortex (PFC). However, the underlying interactions between D1 and D3 receptors and BDNF in the expression of behavioral responses controlled by drug-associated cues have not yet been fully elucidated. In this study, we used dopamine receptor mutant mice to explore the roles of the D1 and D3 receptors in locomotion and morphine-induced place preference; furthermore, we investigated the effects of morphine on BDNF expression in the NAc and PFC of the mouse brain. Our results show that D1 receptor but not D3 receptor mutant mice had decreased sensitivity to acute morphine-induced (10 mg/kg) locomotion (D1: 3814.82 ± 319.9 cm vs D3: 8089.64 ± 967.4 cm). Furthermore, D1 receptor mutant mice did not acquire morphine-conditioned place preference (D1: -18.3 ± 59.9, D3: 217.7 ± 64.1) and showed decreased BDNF expression in the NAc (D1: 0.33 ± 0.07 fold, D3: 2.21 ± 0.18 fold) and PFC (D1: 0.74 ± 0.15 fold, D3: 1.68 ± 0.22 fold) compared with wild-type and D3 receptor mutant mice. These findings suggest that the D1 receptor is necessary for the induction of cue-associated morphine seeking and modulates locomotor habituation processes in response to acute morphine. The dopamine receptor D1 but not the D3 is also critical for morphine-induced BDNF expression in the NAc and PFC.
Subject(s)
Conditioning, Psychological/drug effects , Morphine/pharmacology , Receptors, Dopamine D1/metabolism , Receptors, Dopamine D3/metabolism , Animals , Behavior, Animal/drug effects , Brain-Derived Neurotrophic Factor/metabolism , Choice Behavior , Male , Mice, Inbred C57BL , Mice, Mutant Strains , Motor Activity/drug effects , Nucleus Accumbens/drug effects , Nucleus Accumbens/metabolism , Prefrontal Cortex/drug effects , Prefrontal Cortex/metabolismABSTRACT
A large number of microsatellite genetic markers have been identified in the human leukocyte antigen (HLA) region. We investigated genetic polymorphism of the nine short tandem repeat (STR) loci (D6S276, MOGCA, D6S265, MIB, D6S273, G51152, TAP1CA, RING3CA, and D6S291) in the HLA region in the Shaanxi Han population. Using a fluorescence-labeled multiplex-PCR STR typing method, 6-13 alleles were detected in these nine STR loci in 150 unrelated Han Chinese from the region of Shaanxi, China. The distributions of the genotypes at these nine loci were in Hardy-Weinberg equilibrium. We conclude that these nine STR loci have a high level of genetic polymorphism; they would be useful for population genetic studies, pre-transplantation HLA typing, forensic and paternity testing, etc.
Subject(s)
Asian People/genetics , Genetic Loci/genetics , HLA Antigens/genetics , Microsatellite Repeats/genetics , Polymorphism, Genetic , China , Chromosomes, Human, Pair 6/genetics , Ethnicity/genetics , Gene Frequency/genetics , Genetic Markers , HumansABSTRACT
We examined polymorphism of the TCTA tetranucleotide sequence in the 3rd intron of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in the Han population of Ningxia Province in China. We also looked for a possible relationship between STR polymorphism in the 3rd intron of the HPRT gene and primary hyperuricemia. We used Chelex-100 to extract DNA, then PCR, PAGE and silver staining for allele genotyping and DNA sequencing to obtain the distribution of the alleles. We found, for the first time, that there is high STR polymorphism in the 3rd intron of the HPRT gene. We detected 5 STR alleles in this intron in the Han population of Ningxia Province, with 15 genotypes in females; significant differences were observed in the distribution of alleles and genotypes between control and patient groups for both males and females. Alleles of the TCTA repeat in the 3rd intron of the HPRT gene were found to be associated with primary hyperuricemia; consequently, these alleles may be considered risk factors for primary hyperuricemia.