Inter individual differences in the metabolism of antimalarials could be due to polymorphism of NAT2 gene. The authors determined the genotypic frequencies of single nucleotide polymorphism （SNP） of NAT2 gene and it...Inter individual differences in the metabolism of antimalarials could be due to polymorphism of NAT2 gene. The authors determined the genotypic frequencies of single nucleotide polymorphism （SNP） of NAT2 gene and it＇s implication in antimalarial treatment during a vitamin A and zinc supplementation intervention in children aged 6 to 24 months. Children were deparasitized with artesunate-amodiaquine （ASAQ）-toddler 50/135 mg. Pharmacovigilance was done for 40 days, adverse events recorded and blood was spotted on filter paper for DNA extraction by chelex method. PCR-RFLP was performed with restriction enzymes KpnI, TaqI, and BamHl for detection of SNPs of NAT2. Allelic frequencies and phenotypes were compared between participants with or without adverse drug events. The prevalence of fast, slow and intermediate acetylators was 55%, 30% and 11% respectively. There was a significant association （P = 0.035） between NAT2 slow acetylators （and susceptibility to develop skin rash. No significant difference was observed between fast and slow acetylators and susceptibility to develop fever, anorexia, cough and common cold. Slow acetylators were more susceptible, （P = 0.011） to develop any adverse event The NAT2 slow acetylator phenotype was the most predominant and individuals with this phenotype were more significantly susceptible to develop adverse events to ASAQ.展开更多
Objective: To analyze subtypes and quasi-species of isolatedviruses from HIV-1 infected individuals among the populationof Guangdong Province, for understanding the molecularepidemiological dynamics of local HIV-1 iso...Objective: To analyze subtypes and quasi-species of isolatedviruses from HIV-1 infected individuals among the populationof Guangdong Province, for understanding the molecularepidemiological dynamics of local HIV-1 isolates, thus laying afoundation for designing a candidate AIDS vaccine. Methods: By hetero-duplex mobility assay (HMA) andsingle strand conformation poly-morphism (SSCP) analysison amplicons from single-primed polymerase chain reaction(SP-PCR), subtypes and quasi-species of tested HIV-1 isolateswere elucidated, and amplicons were sequenced forconfirmation. Results: Specific amplicons from different subtypes andquasi-species of HIV-1 could be discernible by HMA andSSCP analysis. Conclusion: HIV-1 isolates from different patients might beeither a different subtype or an identical subtype, and HIV-1isolates from an individual were present in a population ofquasi-species.展开更多
Objective To determine whether interleukin-1α and 1β gene polymorphism is associated with rheumatoid arthritis disease activity and bone mineral metabolism, and whether there is any relationship between IL-1β an...Objective To determine whether interleukin-1α and 1β gene polymorphism is associated with rheumatoid arthritis disease activity and bone mineral metabolism, and whether there is any relationship between IL-1β and rheumatoid arthritis (RA) motif gene. Methods IL-1 gene polymorphisms were analyzed in 65 RA patients who met American College of Radiology (ACR) criteria and 60 controls. From genomic DNA, 2 polymorphisms in each gene for IL1α-889 and IL-1β+3953 were typed by PCR-RFLP and HLA-DRB1 allele typing was also undertaken by PCR-SSOP. Some clinical and laboratory parameters were collected. The allelic frequencies and carriage rates were compared between RA patients and controls and between patients with active and quiescent disease. Comparison was also made between IL-1 polymorphism and parameters of bone mineral metabolism and between patients with the HLA-DRB1 RA motif plus IL-1β 2 and patients without the two alleles. Fisher test and the analysis of variance was used to analyze the data.Results There was no significant difference in the frequency and carriage rate of IL-1α polymorphisms between RA patients and the controls. The β2/2 genotype of IL-1β was more common in female RA patients compared with controls (P=0.001). A lower carriage rate of IL-1β 2 occurred in male RA patients (P=0.001). A higher carriage rate of IL-1α2 is associated with a higher ESR (P=0.008), HAQ score (P=0.03), and vit-D 3 (P【0.001), but conversely a lower SJC (p=0.002), a lower RF (P=0.002) and a lower BMD at the lumbar spine (P=0.001). A higher frequency of IL-1α1 is associated with a lower CRP value (P=0.009). An increased IL-1β2 carriage is associated with active rheumatoid disease as indicated by a higher CRP (P【0.001), ESR (P【0.001) and pain score (P=0.001) and a higher BMD at the lumbar spine (P=0.007), lower vit-D 3 and. Udpd/Crea level The presence of the HLA DRB1 RA motif and IL-1β allele 2 at same time did not contribute to disease activity.Conclution Polymorphisms of the IL-β gene may affect the RA occurrence. Carriage of IL-1β2 polymorphisms is associated with more active disease in RA and the presence of both the IL-1α2 and the IL-1β1 allele in RA influences bone resorption.展开更多
The mismatch distribution is a good descriptive summary statistic that describes the phenomena of population genetics. This article scanned mismatch distribution on human genome with single nucleotide polymorphism （...The mismatch distribution is a good descriptive summary statistic that describes the phenomena of population genetics. This article scanned mismatch distribution on human genome with single nucleotide polymorphism （SNP） data from the International HapMap Project. It is found that the abnormal mismatch distribution could imply some special segments on some chromosomes. One of the segments, on chromosome 8, was proved as an inversion. Other special segments may also imply some special structure on chromo- somes, such as duplication. The conjectures of other segments still need further research.展开更多
文摘Inter individual differences in the metabolism of antimalarials could be due to polymorphism of NAT2 gene. The authors determined the genotypic frequencies of single nucleotide polymorphism （SNP） of NAT2 gene and it＇s implication in antimalarial treatment during a vitamin A and zinc supplementation intervention in children aged 6 to 24 months. Children were deparasitized with artesunate-amodiaquine （ASAQ）-toddler 50/135 mg. Pharmacovigilance was done for 40 days, adverse events recorded and blood was spotted on filter paper for DNA extraction by chelex method. PCR-RFLP was performed with restriction enzymes KpnI, TaqI, and BamHl for detection of SNPs of NAT2. Allelic frequencies and phenotypes were compared between participants with or without adverse drug events. The prevalence of fast, slow and intermediate acetylators was 55%, 30% and 11% respectively. There was a significant association （P = 0.035） between NAT2 slow acetylators （and susceptibility to develop skin rash. No significant difference was observed between fast and slow acetylators and susceptibility to develop fever, anorexia, cough and common cold. Slow acetylators were more susceptible, （P = 0.011） to develop any adverse event The NAT2 slow acetylator phenotype was the most predominant and individuals with this phenotype were more significantly susceptible to develop adverse events to ASAQ.
基金Financially supported by Natural Science Foundation of China(No 39870725)Natural Science Foundation of Guangdong(No 980642)Research Foundation of Guangdong Education Bureau(No.20032).
文摘Objective: To analyze subtypes and quasi-species of isolatedviruses from HIV-1 infected individuals among the populationof Guangdong Province, for understanding the molecularepidemiological dynamics of local HIV-1 isolates, thus laying afoundation for designing a candidate AIDS vaccine. Methods: By hetero-duplex mobility assay (HMA) andsingle strand conformation poly-morphism (SSCP) analysison amplicons from single-primed polymerase chain reaction(SP-PCR), subtypes and quasi-species of tested HIV-1 isolateswere elucidated, and amplicons were sequenced forconfirmation. Results: Specific amplicons from different subtypes andquasi-species of HIV-1 could be discernible by HMA andSSCP analysis. Conclusion: HIV-1 isolates from different patients might beeither a different subtype or an identical subtype, and HIV-1isolates from an individual were present in a population ofquasi-species.
文摘Objective To determine whether interleukin-1α and 1β gene polymorphism is associated with rheumatoid arthritis disease activity and bone mineral metabolism, and whether there is any relationship between IL-1β and rheumatoid arthritis (RA) motif gene. Methods IL-1 gene polymorphisms were analyzed in 65 RA patients who met American College of Radiology (ACR) criteria and 60 controls. From genomic DNA, 2 polymorphisms in each gene for IL1α-889 and IL-1β+3953 were typed by PCR-RFLP and HLA-DRB1 allele typing was also undertaken by PCR-SSOP. Some clinical and laboratory parameters were collected. The allelic frequencies and carriage rates were compared between RA patients and controls and between patients with active and quiescent disease. Comparison was also made between IL-1 polymorphism and parameters of bone mineral metabolism and between patients with the HLA-DRB1 RA motif plus IL-1β 2 and patients without the two alleles. Fisher test and the analysis of variance was used to analyze the data.Results There was no significant difference in the frequency and carriage rate of IL-1α polymorphisms between RA patients and the controls. The β2/2 genotype of IL-1β was more common in female RA patients compared with controls (P=0.001). A lower carriage rate of IL-1β 2 occurred in male RA patients (P=0.001). A higher carriage rate of IL-1α2 is associated with a higher ESR (P=0.008), HAQ score (P=0.03), and vit-D 3 (P【0.001), but conversely a lower SJC (p=0.002), a lower RF (P=0.002) and a lower BMD at the lumbar spine (P=0.001). A higher frequency of IL-1α1 is associated with a lower CRP value (P=0.009). An increased IL-1β2 carriage is associated with active rheumatoid disease as indicated by a higher CRP (P【0.001), ESR (P【0.001) and pain score (P=0.001) and a higher BMD at the lumbar spine (P=0.007), lower vit-D 3 and. Udpd/Crea level The presence of the HLA DRB1 RA motif and IL-1β allele 2 at same time did not contribute to disease activity.Conclution Polymorphisms of the IL-β gene may affect the RA occurrence. Carriage of IL-1β2 polymorphisms is associated with more active disease in RA and the presence of both the IL-1α2 and the IL-1β1 allele in RA influences bone resorption.
文摘The mismatch distribution is a good descriptive summary statistic that describes the phenomena of population genetics. This article scanned mismatch distribution on human genome with single nucleotide polymorphism （SNP） data from the International HapMap Project. It is found that the abnormal mismatch distribution could imply some special segments on some chromosomes. One of the segments, on chromosome 8, was proved as an inversion. Other special segments may also imply some special structure on chromo- somes, such as duplication. The conjectures of other segments still need further research.
