RESUMO
<p><b>OBJECTIVE</b>To assess the association between 2 single nucleotide polymorphisms (SNPs) of ETS1 gene and susceptibility to systemic lupus erythematosus (SLE) in a northern Chinese Han population.</p><p><b>METHODS</b>Two SNPs within the ETS1 gene mapped to 11q23 were selected based on HapMap data. Genotyping was conducted with Taqman method in 231 patients with SLE and 474 healthy controls from Qilu Hospital, Shandong and analyzed with PLINK1.07 software. Haplotypes were analyzed with SHEsis software.</p><p><b>RESULTS</b>A statistically significant difference was detected in the distribution of rs1128334 and rs4937333 genotypes between the two groups (all P< 0.01). For rs1128334, the frequency of the minor allele was 0.291 and 0.428 in controls and cases, respectively. For rs4937333, the minor allele frequency was 0.381 and 0.476 in controls and cases respectively. An A-C haplotype was found to be strongly associated with increased risk for SLE, while another haplotype G-C may reduce this risk.</p><p><b>CONCLUSION</b>Our study has suggested that rs1128334 and rs4937333 are strongly associated with the risk for SLE in northern Chinese Han population.</p>
Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Regiões 3' não Traduzidas , Povo Asiático , Etnologia , Genética , Estudos de Associação Genética , Lúpus Eritematoso Sistêmico , Etnologia , Genética , Polimorfismo de Nucleotídeo Único , Proteína Proto-Oncogênica c-ets-1 , GenéticaRESUMO
<p><b>OBJECTIVE</b>To select short tandem repeats(STR) from X chromosome.</p><p><b>METHODS</b>STR is a universal genetic marker that has changeable polymorphism and stable heredity in human genome. It is a specific DNA segment composed of 2-6 base pairs as its core sequence. It is an ideal DNA marker used in linkage analysis and gene mapping. In this study, 8 short tandem repeats were selected from two genomic clones on X chromosome by using BCM Search Launcher. Primers amplifying the STR loci were designed by using Primer 3.0 according to the unique sequence flanking the STRs. Polymorphisms of the short tandem repeats in Chinese population were evaluated by PCR amplification and PAGE.</p><p><b>RESULTS</b>Five of these STRs were polymorphic. Chi-square test indicated that the distribution of genotypes agreed with Hardy-Weinberg equilibrium (P>0.05).</p><p><b>CONCLUSION</b>Five polymorphic short tandem repeats have been identified on chromosome X and will be useful for linkage analysis and gene mapping.</p>
Assuntos
Feminino , Humanos , Cromossomos Humanos X , Genética , Genótipo , Repetições de Microssatélites , Genética , Reação em Cadeia da Polimerase , Polimorfismo Genético , GenéticaRESUMO
<p><b>OBJECTIVE</b>Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation syndrome. The authors had ascertained a large Chinese family with SFMS from Shandong and had mapped the disease locus to an interval of 19.8 Mb on Xq25 flanked by markers DXS8064 and DXS8050. Further investigation suggested that SFMS exhibited locus heterogeneity. In this study for facilitating the identification of the gene responsible for SFMS, the additional markers were analyzed to narrow down the candidate region, and four candidate genes (GPC3, MST4,GPCR2 and GLUD2) were chosen and screened for disease-causing mutation.</p><p><b>METHODS</b>PCR and denaturing polyacrylamide gel electrophoresis were used to genotype 13 new polymorphic markers distributed within the candidate region. Mutation detection was accomplished by sequencing the exons and intron-exon junctions of the candidate genes.</p><p><b>RESULTS</b>By analyzing 13 additional polymorphic markers, SFMS candidate region can be reduced to an interval of 10.18 Mb bounded by XSTR3 and XSTR4, and no disease-causing mutation was identified in the coding regions of four candidate genes.</p><p><b>CONCLUSION</b>GPCR2 GPC3, MST4 and GLUD2 were excluded as pathogenic genes for SFMS. The refined SFMS locus will assist in the identification and characterization of other candidate genes for SFMS.</p>
Assuntos
Humanos , Masculino , Anormalidades Múltiplas , Genética , Mapeamento Cromossômico , Cromossomos Humanos X , Ligação Genética , Glutamato Desidrogenase , Genética , Glipicanas , Deficiência Intelectual , Genética , Proteínas de Membrana , Genética , Proteínas de Neoplasias , Genética , Proteínas Serina-Treonina Quinases , Genética , Receptores Acoplados a Proteínas G , Genética , SíndromeRESUMO
<p><b>OBJECTIVE</b>To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.</p><p><b>METHODS</b>Polymerase chain reaction-single sequence length polymorphism was used to genotype the family members from 8 families with osteoporosis-pseudoglioma syndrome(OPS) for 14 polymorphic loci within candidate region. The OPS candidate region was narrowed by searching for homozygous region in affected.</p><p><b>RESULTS</b>The OPS candidate region was narrowed to a 1 cM interval between D11S1296 and D11S4136.</p><p><b>CONCLUSION</b>Homozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.</p>
Assuntos
Feminino , Humanos , Masculino , Anormalidades Múltiplas , Genética , Patologia , Mapeamento Cromossômico , Métodos , Cromossomos Humanos Par 11 , Genética , Oftalmopatias , Patologia , Saúde da Família , Predisposição Genética para Doença , Genética , Homozigoto , Repetições de Microssatélites , Osteogênese Imperfeita , Patologia , Linhagem , SíndromeRESUMO
The muttagenic H-13 strain which was injected by ionic beam and screened from Trichoderma hamzlaiarum, can promote the growth of rice remarkably. In the experiment, we use zymolytic liquid of H-13 strain sprinkle on the seedling of rice, and determine nitrate reductase activity and N, P, K content. The results suggest that the effect of promoting plant growth of the strain has a relation to the enhance of nitrate reductase activity and the increase of N, P and K absorption.