Current status and implication of research on Bardet-Biedl syndrome / 中华医学遗传学杂志

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s. BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy, obesity, polydactyly, renal malformations and functional abnormalities, learning disabilities and hypogenitalism. BBS patients are also prone to diabetes mellitus, hypertension and congenital heart disease. To date, 16 BBS genes (BBS1-BBS16) have been identified. However, the molecular etiology of BBS is not yet entirely clear. In this article, we have reviewed recent research on BBS and discussed its implications for understanding of ciliopathology.

Cyclin D1 gene G870A polymorphism and susceptibility to nasopharyngeal carcinoma / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>The aim of this study was to investigate the susceptibility and prognostic implications of the cyclin D1 gene (CCND1) G870A polymorphism to nasopharyngeal carcinomas (NPC) in Han population in Yunnan China.</p><p><b>METHODS</b>Two hundred and forty one cases with NPC and 271 matched cancer-free controls were genotyped for the CCND1 G870A polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing. The adjusted odds ratios (OR) and 95% confidence intervals (CI) were calculated by using unconditional logistic regression model. Overall survival was assessed using univariate and multivariate analyses.</p><p><b>RESULTS</b>Contrast with homozygous CCND1 G870G, A allele significantly increasing risk of NPC was associated with homozygous A870A (OR = 4.79, 95% CI 2.77 - 8.28, P < 0.001) and heterozygous A870G (OR = 1.72, 95% CI 1.10 - 2.68, P = 0.017). The subjects at least having one CCND1 870A allele had OR of 2.40 (95% CI 1.59 - 3.63, P < 0.001). Furthermore, smoking may increase the risk of developing NPC interacting with CCND1 G870A polymorphism. Kaplan-Meier analysis and Cox regression analysis demonstrated that the five-year survival rate of subjects with AA, AG and GG genotype was 56.2%, 78.5% and 81.4% (AA vs GG, P = 0.003; AA vs AG, P = 0.012; AG vs GG, P = 0.132), but not independent prognostic factor in NPC (P = 0.501).</p><p><b>CONCLUSIONS</b>The CCND1 870A allele is associated with the NPC in Han population in Yunnan China, meanwhile, showed a significant prognosis for those patients.</p>

The production of gastrodin through biotransformation of p-hydroxybenzaldehyde by cell suspension culture of Datura stramonium / 药学学报

<p><b>AIM</b>To investigate the production of p-hydroxymethylphenol-beta-D-glucoside (gastrodin) through biotransformation by plant cell suspension cultures.</p><p><b>METHODS</b>Using cell suspension cultures of Datura stramonium to convert the exogenous p-hydroxybenzaldehyde into gastrodin was conducted and the converted compounds were separated with a combination of multi-chromatography. Their chemical structures were determined on the basis of spectral analysis and chemical evidence.</p><p><b>RESULTS</b>The conversion procedure of p-hydroxybenzaldehyde into gastrodin by Datura stramonium cell suspension cultures was established. The synthesized gastrodin (II) was isolated from the fermental liquor and identified by spectral analysis. At the same time, the p-hydroxybenzyl alcohol (I) converted through biotransformation of p-hydroxybenzaldehyde by cell suspension cultures of Datura stramonium was also isolated and identified. Two compounds were also isolated from the cell cultures and they were identified as beta-D-furanoallulose (III) and n-butyloxystyryl-beta-D-pyranoallulose (IV).</p><p><b>CONCLUSION</b>Datura stramonium grown in suspension cultures can convert exogenous p-hydroxybenzaldehyde into the corresponding gastrodin.</p>

Production of gastrodin through biotransformation of p-hydroxybenzaldehyde by cell suspension cultures of Datura tatula L / 生物工程学报

The conversion of exogenous p-hydroxybenzaldehyde to p-hydroxy-methyl-phenol-beta-D-glucoside (gastrodin) was studied by using cell suspension culture of Datura tatula L. The chemical structure of this synthesized gastrodin was identified based on the spectral analysis and chemical evidence. The conversion procedure of p-hydroxybenzaldehyde into gastrodin by D. tatula L. cell suspension cultures was established. The synthesized gastrodin (II) was isolated from the ferment liquor and identified by spectral analysis. At the same time, the p-hydroxybenzyl alcohol (I) converted through biotransformation of p-hydroxybenzaldehyde by cell suspension cultures of D. tatula L. was also isolated and identified. The efficiency of glucosylation of p-hydroxybenzaldehyde was remarkably enhanced by adding salicylic acid (0.1 mg/L) and keeping the lower pressure (0.001MPa) in 25L airlift loop bioreactor. The biotransformation of exogenous p-hydroxybenzaldehyde to gastrodin by cell suspension culture of D. tatula L. is a promising approach.

The frequency distribution of flavin-containing monooxygenase 3 mutant alleles in 28 populations from Yunnan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the frequency distribution of flavin-containing monooxygenase 3 (FMO3) mutant alleles in 28 populations originating from 24 ethnic minorities in Yunnan of China.</p><p><b>METHODS</b>FMO3 genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism.</p><p><b>RESULTS</b>The average frequencies of FMO3/Stop(148), FMO3/Lys(158) and FMO3/Gly(308) were 0.395(0.174-0.803), 0.208 (0.056-0.414), 0.046(0-0.217), respectively. The frequencies of FMO3/Gly(308) in Blang, Huayaodai, Shuidai, Zhuang, De'ang, Jingpo, Nu and Hui populations were null.</p><p><b>CONCLUSION</b>It was found that the frequencies of FMO3 mutant alleles varied not only in different ethnic groups, but also in different populations that stemmed from the same ethnic group.</p>

Frequencies distribution of GSTT1 and GSTM1 null genotypes in 24 Yunnan populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the frequencies distribution of GSTT1 and GSTM1 null genotypes in 24 Yunnan populations.</p><p><b>METHODS</b>GSTT1 and GSTM1 genotypes were analyzed by PCR procedure.</p><p><b>RESULTS</b>The range of frequencies for GSTT1 and GSTM1 null genotypes in the populations were 0.188-0.633 and 0.400-0.745, respectively, and in the districts were 0.286-0.583, 0.433-0.745 respectively. There was significant relationship between GSTT1 frequencies and populations.</p><p><b>CONCLUSION</b>The frequencies of GSTT1 and GSTM1 null genotypes in 24 Yunnan populations were different, but they were almost the same in different districts of Yunnan.</p>

Gene frequencies of 4 STR loci in Tibetan population of Yunnan province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the gene frequencies of 4 STR loci in Tibetan population of Yunnan.</p><p><b>METHODS</b>Multiple polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining were used to detect D21S11, D8S1179, D16S539 and LPL loci. DNA samples collected from 105 unrelated Tibetan individuals in Yunnan province were analyzed.</p><p><b>RESULTS</b>At D21S11, D8S1179, D16S539 and LPL loci, 13, 8, 7, 6 alleles and 33, 21, 16 and 9 genotypes were observed, respectively. The genotype distribution of the 4 STR was in accordance with the Hardy-Weinberg equilibrium.</p><p><b>CONCLUSION</b>The high combined discrimination power and exclusion power of the four loci in Tibetan population make multi-PCR detection a valuable tool for forensic identity, genetics and anthropology.</p>