OBJECTIVETo identify the expression characteristics of the 1700001022RIK (RIKEN cDNA 1700001022) gene in mice and explore its function by bioinformatic analysis.

METHODSUsing the expression profile of gene microarray, we detected the expression of a new testis-specific gene, 1700001022RIK, in mice. We analyzed its expression characteristics in the testis tissue and their changes in different developmental stages of the testis by RT-PCR, real-time RT-PCR, Western blot, and immunohistochemistry. We performed bioinformatic analysis using a bioinformatic software.

RESULTSThe 1700001022RIK gene was specifically expressed in the mouse testis in an age-dependent manner, most highly in the adult mice. The 1700001022RIK protein was mainly expressed in the spermatogonia, spermatocytes, and round spermatids of the adult mice. Bioinformatic analysis showed that the 1700001022RIK protein amino acid sequence had a high similarity in human and mice, which indicated that this gene was highly conserved in mammals.

CONCLUSION1700001022RIK is a testis-specific gene mainly expressed in the spermatogonia, spermatocytes, and round spermatids of seminiferous tubules, which might be involved in the regulation of spermatogenesis.

Age Factors ; Animals ; Blotting, Western ; Computational Biology ; DNA, Complementary ; Gene Expression ; Genomics ; Male ; Mice ; Molecular Chaperones ; genetics ; Seminiferous Tubules ; Spermatids ; Spermatocytes ; Spermatogenesis ; genetics ; Spermatogonia ; Testis

OBJECTIVETo observe the therapeutic effect of self-formulated Xiaokang Zhongzi Recipe (XZR) in treating male infertility with positive antisperm antibody (AsAb).

METHODSOne hundred and ten male infertility patients with positive AsAb were randomly assigned, according to randomized digital table, to the trial group treated with XZR, and the control group, treated with prednisone, 55 in each group. Clinical therapeutic effect and adverse reactions of the drugs were observed after 3 months of treatment.

RESULTSIn the trial group after treatment, 38 patients (69.1%) were cured, 14 (25.4%) improved and 3 treated in vain (5.5%, including 2 dropped out). While in the control group, the corresponding numbers were 12 (21.8%), 11 (20.0%) and 32 (58.2%, including 4 dropped out, 20 remained AsAb positive and 8 with AsAb reverted to positive after negative conversion). The negative conversion rate and average negative conversion time in the trial group and the control group were respectively 94.5%, (45 +/- 14) days and 41.8%, (62 +/- 21) days. Significant difference between the two groups was shown in therapeutic effectiveness and average negative conversion time (P < 0.01). Adverse reactions occurred in 3 cases (5.5%) in the trial group and 8 (14.5%) in the control group.

CONCLUSIONXZR is better than prednisone in treating male infertility with positive AsAb, and with fewer and milder adverse reactions.

Adult ; Autoantibodies ; blood ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Infertility, Male ; drug therapy ; etiology ; immunology ; Male ; Phytotherapy ; Spermatozoa ; drug effects ; immunology ; Treatment Outcome ; Young Adult

OBJECTIVEMeasures of ventilation-CO₂output relationship have been shown to be more prognostic than peak O₂uptake in assessing life expectancy in patients with chronic heart failure (CHF). Because both the ratios (VE/Vco₂) and slopes (VE-vs-Vco₂) of ventilation-co₂ output of differing durations can be used, we aim to ascertain which measurements best predicted CHF life expectancy.

METHODSTwo hundred and seventy-one CHF patients with NYHA class II-IV underwent incremental cardiopulmonary exercise testing (CPET) and were followed-up for a median duration of 479 days. Four different linear regression VE-vs- Vco₂ slopes were calculated from warm-up exercise onset to: 180 s, anaerobic threshold (AT), ventilatory compensation point (VCP); and peak exercise. Five VE/Vco₂ ratios were calculated for the following durations: rest (120 s), warm-up (30 s), AT (60 s), lowest value (90 s), and peak exercise (30 s). Death or heart transplant were considered end-points. Multiple statistical analyses were performed.

RESULTSCHF patients had high lowest VE/Vco₂ (41.0 ± 9.2, 141 ± 30%pred), high VE/Vco₂ at AT (42.5 ± 10.4, 145 ± 35%pred), and high VE-vs-Vco₂ slope to VCP (37.6 ± 12.1, 126 ± 41%pred). The best predictor of death was a higher lowest VE/Vco₂ (≥ 42, ≥ 141%pred), whereas the VE-vs-Vco₂slope to VCP was less variable than other slopes. For death prognosis in 6 months, %pred values were superior: for longer times, absolute values were superior.

CONCLUSIONThe increased lowest VE/Vco₂ ratio easily identifiable and simply measured during exercise, is the best measurement to assess the ventilation-co₂output relationship in prognosticating death in CHF patients.

Carbon Dioxide ; metabolism ; Chronic Disease ; Disease Progression ; Exercise Test ; Heart Failure ; diagnosis ; mortality ; physiopathology ; Humans ; Life Expectancy ; Respiratory Function Tests

OBJECTIVETo investigate the exposure levels of carbon disulfide (CS(2)) for a chemical fiber industry.

METHODSThe concentration of CS(2) was monitored in representative workshops and types of work, and the datas of that over the years were collected.

RESULTSThe short-term exposure concentration of CS(2) about 80% of the type of work was less than or equal to 10 mg/m(3), which of more than 90% was less than or equal to 20 mg/m(3). The time weighted average concentration of CS(2) about 70% of the type of work was less than or equal to 5 mg/m(3), which of more than 90% was less than or equal to 10 mg/m(3). The short-term exposure concentration of CS(2) which was more than 15 mg/m(3) or the time weighted average concentration of CS(2) which was more than 30 mg/m(3) was only for little type of work.

CONCLUSIONThe concentration of CS(2) for the most type of work was lower, but there were still a number of types of work exposuring the higher concentration, which exceed the national occupational exposure limits.

Carbon Disulfide ; analysis ; Chemical Industry ; Humans ; Occupational Exposure ; analysis ; Workplace

OBJECTIVETo identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).

METHODSThe disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.

RESULTSA missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.

CONCLUSIONThe mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.

China ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; KCNQ1 Potassium Channel ; genetics ; Long QT Syndrome ; diagnosis ; genetics ; Male ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction

OBJECTIVETo investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.

METHODSPolymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.

RESULTSWe identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms (SNPs) G643S in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients.

CONCLUSIONNew mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.

Adolescent ; Adult ; Base Sequence ; ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; genetics ; Female ; Humans ; Jervell-Lange Nielsen Syndrome ; genetics ; KCNQ1 Potassium Channel ; genetics ; Long QT Syndrome ; congenital ; genetics ; Male ; Middle Aged ; Molecular Sequence Data ; Muscle Proteins ; genetics ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel ; Pedigree ; Potassium Channels, Voltage-Gated ; genetics ; Romano-Ward Syndrome ; genetics ; Sodium Channels ; genetics

OBJECTIVETo construct an adenovirus vector containing the double-mutant hypoxia-inducible factor-1alpha (HIF-1alpha) gene for exploring the therapeutic angiogenesis for coronary heart disease.

METHODSHuman double-mutant HIF-1alpha cDNA was obtained from PCR of pShuttle-2-HIF-1alpha containing the mutant HIF-1alpha gene (564). The recombinant adenoviral plasmid containing mutant HIF-1alpha cDNA was constructed by ligation of recombinant pShuttle2 containing double-mutant HIF-1alpha cDNA and Adeno-X viral DNA, followed by its identification and transfection into adenoviral packaging cells HEK293 via lipofectamine 2000.

RESULT AND CONCLUSIONThe recombinant pAdeno-HIF-1alpha was correctly constructed and verified by restriction endonuclease and DNA sequencing analyseis. This recombinant adenovirus containing the double-mutant HIF-1alpha gene may facilitate further investigation of mutant HIF-1alphagene therapy for coronary heart disease.

Adenoviridae ; genetics ; Cell Line, Tumor ; Coronary Disease ; therapy ; Genetic Therapy ; Genetic Vectors ; biosynthesis ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; genetics ; Plasmids

OBJECTIVETo explore the impact of the waist circumference change on new onset diabetes (NOD) in the impaired fasting glucose (IFG) population.

METHODSA total of 12 657 subjects who took part in the health examination from 2006 to 2007 and from 2010 to 2011 from the employees of Kailuan Group and met the inclusion criteria were selected as the observation cohort.Of the 12 657 subjects, 10 697 were male, 1960 were female, with age of (49.9 ± 11.3) years old. According to the baseline waist circumference (WC) measurements and its quartile in the health examinations during 2006 to 2007, the observation population was divided into four groups (first, second, third and the fourth quartile groups) . Multiple logistic regression analysis was used to test the relation between the increasing of WC and NOD.

RESULTSThe incidences in the IFG population of NOD were 4.27% (1884/12 657) in the total population;4.25% (1581/10 697) in male and 4.44% (303/1960) in females, respectively (P < 0.05) . Along with increasing WC in the 4 quartile groups, the incidences of NOD was progressively increased, which were 2.19% (235/3083) , 3.07% (333/3114) , 4.47% (473/3037) and 7.08% (843/3423) , respectively;2.34% (213/2626) , 3.06% (282/2645) , 4.37% (393/2582), 7.00% (693/2844) in males and 1.38% (22/457) , 3.12% (51/469) , 5.05% (80/455) , 7.45% (150/579) in female (P < 0.05) . Multiple logistic regression analysis showed that compared with the first quartile group, the second, third and fourth quartile group had increased risk of NOD after adjusting for age, gender and other risk factors, the OR (95%CI) values were 1.38(1.13-1.68), 1.79 (1.47-2.09) and 3.10 (2.57-3.75), respectively.

CONCLUSIONThe incidence of NOD in the IFG population increased as the WC increased.

Adult ; Blood Glucose ; metabolism ; Diabetes Mellitus, Type 2 ; epidemiology ; Female ; Glucose Intolerance ; epidemiology ; Humans ; Incidence ; Male ; Middle Aged ; Risk Factors ; Waist Circumference

OBJECTIVETo select short tandem repeats(STR) from X chromosome.

METHODSSTR 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.

RESULTSFive of these STRs were polymorphic. Chi-square test indicated that the distribution of genotypes agreed with Hardy-Weinberg equilibrium (P>0.05).

CONCLUSIONFive polymorphic short tandem repeats have been identified on chromosome X and will be useful for linkage analysis and gene mapping.

Chromosomes, Human, X ; genetics ; Female ; Genotype ; Humans ; Microsatellite Repeats ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics

OBJECTIVESmith-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.

METHODSPCR 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.

RESULTSBy 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.

CONCLUSIONGPCR2 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.

Abnormalities, Multiple ; genetics ; Chromosome Mapping ; Chromosomes, Human, X ; Genetic Linkage ; Glutamate Dehydrogenase ; genetics ; Glypicans ; Humans ; Intellectual Disability ; genetics ; Male ; Membrane Proteins ; genetics ; Neoplasm Proteins ; genetics ; Protein-Serine-Threonine Kinases ; genetics ; Receptors, G-Protein-Coupled ; genetics ; Syndrome