D-bifunctional protein deficiency caused by / 中国当代儿科杂志

A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the

A case-control study on natural-resistance-associated macrophage protein 1 gene polymorphisms and susceptibility to pulmonary tuberculosis / 中华预防医学杂志

<p><b>OBJECTIVE</b>To investigate association between the natural-resistance-associated macrophage protein 1 (NRAMP1) gene polymorphisms and susceptibility to pulmonary tuberculosis (TB) in Chinese Han population.</p><p><b>METHODS</b>Hospital-based case-control study design was adopted. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technique were used to type three NRAMP1 polymorphisms (INT4, D543N and 3'UTR). Information on related factors of tuberculosis was collected using a pre-tested standard questionnaire. Univariate and multivariate unconditional logistic analyses were conducted using SPSS for window software package. Totally, 110 cases of TB were selected during April 2001 to June 2002, with an average age of (27.7 +/- 12.7) years. Also, 180 cases of healthy control were selected, aged (27.3 +/- 9.2) years in average. Locus of NRAMP1 polymorphism was analysed with univariate method.</p><p><b>RESULTS</b>Univariate analysis demonstrated that the D543N G/A and 3'UTR TGTG+/del genotype occurred more frequently in the cases than in the controls, with crude odds ratios (OR) (95% CI) of 2.22 (1.03 - 4.78) and 1.93 (1.14 - 3.26), respectively. No significant association was observed between TB and INT4 polymorphisms. In multivariate analysis, associations of TB and D543N G/A and 3'UTR TGTG+/del genotypes remained, adjusted for exposure history and bacille Camette-Guérin immunization. Adjusted OR (95% CI) was 3.04 (1.12 - 8.27) and 2.36 (1.20 - 4.64), respectively. Still, no significant association between INT4 polymorphisms and TB was found.</p><p><b>CONCLUSION</b>Polymorphisms of D543N and 3'UTR locus in NRAMP1 gene might affect their susceptibility to TB in Chinese Han population.</p>

A case-control study on the vitamin D receptor gene polymorphisms and susceptibility to pulmonary tuberculosis / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the association between the genetic polymorphisms of VDR gene and susceptibility to pulmonary tuberculosis.</p><p><b>METHODS</b>Case-control study was conducted. PCR-RFLP technique was used to detect the C/T polymorphism in VDR gene. Information on related factors of tuberculosis was collected using a pre-tested questionnaire. Univariate and multivariate logistic analyses were conducted with SPSS software package.</p><p><b>RESULTS</b>A sample of 76 cases and 171 controls was studied. The genotype frequencies of VDR-FF, VDR-Ff and VDR-ff were 38.2%, 44.7%, 17.1% and 52.6%, 40.9%, 6.4% respectively. VDR-ff was significantly overrepresented in case group, the OR (95% CI) was 3.668 (1.483 - 9.071) when comparing with FF genotype. The significant association remained after adjusting BCG immunization and smoking, the OR (95% CI) was 3.036 (1.117 - 8.253).</p><p><b>CONCLUSION</b>The VDR-ff genotype might be associated with the susceptibility to pulmonary tuberculosis in Chinese Han population.</p>