RESUMO
An analysis of the core value of 38 tertiary hospitals in the country identified the humanistic spirit as the lifeline of their core value, comprising such factors as benevolence,professionalism and innovation. It also found that upholding of such a spirit is in line with medical model reform, with improvement of hospital management system, and with the upgrading of hospital staff's humanistic competence. The author pointed out that the atmosphere building of such spirit is a systematic process, and that such a spirit can only exert its entire potential by identifying the key person(s) of education and the point of force application, and igniting the inherent innovation power.
RESUMO
<p><b>OBJECTIVE</b>To map the gene responsible for nonsyndromic hearing impairment in a consanguineous family.</p><p><b>METHODS</b>Firstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region.</p><p><b>RESULTS</b>The nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5.07 cM interval bounded by D17S1850 and D17S1818.</p><p><b>CONCLUSION</b>The disease gene of the family is mapped to a 5.07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.</p>
Assuntos
Feminino , Humanos , Masculino , Mapeamento Cromossômico , Métodos , Cromossomos Humanos Par 17 , Genética , Cromossomos Humanos Par 18 , Genética , Cromossomos Humanos X , Genética , Consanguinidade , Saúde da Família , Predisposição Genética para Doença , Genética , Perda Auditiva Neurossensorial , Genética , Repetições de Microssatélites , LinhagemRESUMO
<p><b>OBJECTIVE</b>To determine the genomic structure of low density lipoprotein receptor related protein 5 (LRP5) gene.</p><p><b>METHODS</b>cDNA sequence encoding LRP5 was used to screen genomic clones containing LRP5 gene by computer hybridization approach. By comparing the cDNA sequence of LRP5 with the genomic sequences, the genomic structure of LRP5 was determined, and then it was conformed by amplifying and sequencing the sequences of exons and splicing junction.</p><p><b>RESULTS</b>The genomic sequence of LRP5 gene was 131.6 kb in length, containing 23 exons and 22 introns. Three single nucleotide polymorphisms were detected within the coding sequences of LRP5 gene, namely A459G in exon 2, C2220T in exon 10 and G4416C in exon 21. Four polymorphic markers, D11S1917, D11S4087, D11S1337 and D11S4178, located in the 5' flank sequence, introns 1, 4, and 13 of the LRP5 gene, respectively.</p><p><b>CONCLUSION</b>The characterization of genomic structure of LRP5 gene allows the investigators to detect disease-causing mutation within the gene and further study the function of LRP5 gene.</p>
Assuntos
Humanos , Sequência de Bases , DNA , Química , Genética , Éxons , Genes , Genética , Íntrons , Proteínas Relacionadas a Receptor de LDL , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Polimorfismo de Nucleotídeo Único , Receptores de LDL , Genética , Análise de Sequência de DNARESUMO
<p><b>OBJECTIVE</b>To determine the linkage between Smith-Fineman-Myers syndrome (SFMS) and X-linked nuclear protein(XNP) locus.</p><p><b>METHODS</b>Polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to genotype two polymorphic short tandem repeats within XNP gene.</p><p><b>RESULTS</b>One of the two short tandem repeats was informative in SFMS family from Shandong, China. Recombination between SFMS locus and XNP gene was observed in the SFMS family.</p><p><b>CONCLUSION</b>XNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level.</p>
Assuntos
Feminino , Humanos , Masculino , Anormalidades Múltiplas , Genética , Anormalidades Craniofaciais , Genética , DNA Helicases , Ligação Genética , Transtornos do Crescimento , Genética , Deficiência Intelectual , Genética , Hipotonia Muscular , Genética , Proteínas Nucleares , Genética , Linhagem , Fenótipo , Polimorfismo Genético , Recombinação Genética , Síndrome , Cromossomo X , Proteína Nuclear Ligada ao XRESUMO
<p><b>OBJECTIVE</b>To study the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T genotype and its association with deep vei n thrombophilia in Chinese.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was conducted to examine mutation with 63 deep vein thrombophilic patients and 80 health controls in Shandong Hans. The genotype frequencies were calculated by gene counting in patients and controls, and an analysis was made on the association of MTHFR C677T mutation with deep venous thrombosis in Shandong Hans.</p><p><b>RESULTS</b>In case- controls, the frequencies of C/T heterozygote were 41.27% and 43.75%; whereas those of T/T homozygote were 52.38% and 36.25%. Significantly elevated mutation was observed in patients(Chi-square=6.372, P 0.01 OR(T/T)=4.552 95% confidence interval:1.440-14.390, Chi-square =6.742 P=0.009).</p><p><b>CONCLUSION</b>The C677T mutation of methylenetetrahydrofolate reductase gene is a risk factor associated with deep vein thrombophilia in Shandong Hans.</p>