RESUMO
We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and DNA was extracted from these samples. Multiplex polymerase chain reaction was performed to screen the partial deletions of 25 sequence-tagged sites on the Y chromosome. In 111 cases with KFS, 1 case contained the AZFb+d+c deletion. The Gr/Gr deletion was identified in 12 KFS cases and 5 control cases. In addition, the b2/b3 deletion was identified in 13 KFS cases and 6 control cases. There were no significant differences in phenotype and genotype of the 2 partial AZFc deletions between patients and controls (P > 0.05). Our results suggest that patients with KFS may also have Y chromosome microdeletions to varying degrees and that the gr/gr deletion and b2/b3 deletion may not play a role in the susceptible genetic background of azoospermia in patients with KFS in the Sichuan population.
Assuntos
Síndrome de Klinefelter/genética , Proteínas de Plasma Seminal/genética , Azoospermia/genética , Deleção Cromossômica , Cromossomos Humanos Y/genética , Deleção de Genes , Loci Gênicos/genética , Humanos , Infertilidade Masculina/genética , Masculino , Fenótipo , Sitios de Sequências Rotuladas , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genéticaRESUMO
Previous studies have shown that genetic polymorphisms in exon7 of the NSUN7 gene can be used as an infertility marker in Iranian men with asthenospermia. However, there have been no equivalent studies in China. In the present study, we investigated the possible association between the genetic polymorphisms in exon7 of NSUN7 and asthenospermia in a Chinese Han population. We recruited 240 asthenospermic men as a patient group and 256 normospermic men as a control group, and analyzed the semen parameters on the basis of World Health Organization (WHO) guidelines. The genetic polymorphisms in exon7 of NSUN7 were detected by DNA sequence analysis. The results were analyzed statistically and a P value < 0.05 was considered significant. There were two genetic polymorphisms, c.906C>T and c.922T>G, in exon7 of NSUN7. We found relatively similar genotypes and allele frequencies between the two groups (P = 0.928, P = 0.928, respectively). The combined genotypes of the two polymorphisms did not identify a haplotype associated with asthenospermia (P = 0.824, P = 0.824, respectively). Our findings revealed that genetic polymorphisms in exon7 of the NSUN7 gene are not associated with asthenospermia in Chinese Han men.
Assuntos
Povo Asiático/genética , Astenozoospermia/genética , Éxons , Polimorfismo de Nucleotídeo Único , Adulto , Alelos , Estudos de Casos e Controles , China , Frequência do Gene , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Sequência de DNA , Adulto JovemRESUMO
We examined the association between the methionine synthase reductase (MTRR A66G), methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), and methionine synthase (MS A2756G) genotypes and non-obstructive male infertility in a Chinese population. This case-control study included 162 infertile Chinese patients with azoospermia (N = 100) or oligoasthenozoospermia (N = 62) and 120 fertile men as controls. The polymorphisms MTRR A66G, MTHFR C677T, A1298C, and MS A2756G were identified by direct DNA sequencing and the results were statistically analyzed. We found no association between the incidence of any of these variants in azoospermia patients and control populations. The frequency of the MTRR66 polymorphic genotypes (AG, AG+GG) was significantly higher in the oligoasthenozoospermia group compared to the controls (P = 0.013, 0.012). Our findings revealed an association between the single-nucleotide polymorphism A66G in the MTRR gene and male infertility, particularly in oligoasthenozoospermia males, suggesting that this polymorphism is a genetic risk factor for male infertility in Chinese men.
Assuntos
Ferredoxina-NADP Redutase/genética , Predisposição Genética para Doença/genética , Infertilidade Masculina/genética , Polimorfismo de Nucleotídeo Único , Alelos , Povo Asiático/genética , Azoospermia/etnologia , Azoospermia/genética , Sequência de Bases , Estudos de Casos e Controles , China , Análise Mutacional de DNA , Frequência do Gene , Predisposição Genética para Doença/etnologia , Genótipo , Humanos , Infertilidade Masculina/etnologia , MasculinoRESUMO
We investigated the immune response effects of porcine circovirus type 2 (PCV2) on cells inoculated with pseudorabies attenuated vaccine (PRV). Real-time PCR was used to detect the mRNA expression levels of the regulatory cytokines IL-4, IL-10, IL-12p40, and IFN-γ in pig peripheral blood mononuclear cells, after in vitro single vaccination and co-inoculation with PCV2 and the PRV. We found that PRV causes upregulation of IL-4, IL-12p40, and IFN-γ mRNA expression, while PCV2 causes mRNA upregulation of IL-4, IL-10, and IL-12p40. Moreover, PCV2 inhibited PRV-induced upregulation of IL-4, IL-12p40, and IFN-γ mRNA expression; IFN-γ mRNA expression was significantly inhibited. We conclude that PCV2 can reduce the cellular immune response to PRV.