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Strong association of SLCIA1 and DPF3 gene variants with idiopathic male infertility in Han Chinese

Asian Journal of Andrology 2017年第4期19卷 486-492页

作者： Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Hao Sun Ke-qin Lin xiao-qin huang Kai huang Jia-You Chu Zhao-qing Yang Department of Medical Genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China Reproductive Medical Research Centre People's Hospital of Shiyan Shiyan 442000 China

Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In recent years, several genome-wide single-nucleotide polymorphism （SNP） association studies （GWAS） have been performed on azoospermia and/or oligozoospermia in different populations including two GWAS on nonobstructive azoospermia in China; however, the association of SNPs with idiopathic male infertility, especially asthenozoospermia and oligozoospermia, and their correlation with semen parameters are still not clear. To investigate genetic variants associated with idiopathic male infertility （asthenozoospermia, oligozoospermia, and oligoasthenozoospermia） in Chinese Han people, 20 candidate SNPs were selected from GWAS results and genotyped using the Sequenom MassARRAY assay. A total of 136 subfertile men and 456 healthy fertile men were recruited, rs6476866 in SLCIA1 （P = 1.919E-4, OR = 0.5905, 95% Ch 0.447-0.78） and rs10129954 in DPF3 （P = 0.0023, OR = 2.199, 95% Ch 1.311-3.689） were strongly associated with idiopathic male infertility. In addition, positive associations were observed between asthenozoospermia and rs215702 in LSM5 （P= 0.0016, OR = 1.479, 95% CI： 1.075-2.033） and between oligoasthenozoospermia and rs2477686 in PEXIO （P= 0.0011, OR = 2.935, 95% Ch 1.492-5.775）. In addition, six SNPs （rs215702 in LSMS, rs6476866 in SLCIA1, rs10129954 in DPF3, rs1801133 in MTHFR, rs2477686 in PEXIO, and rs10841496 in PED3A） were significantly correlated with semen quality alterations. Our results suggest that idiopathic male infertility in different ethnic groups may share the same mechanism or pathway. Cohort expansion and further mechanistic studies on the role of genetic factors that influence spermatogenesis and sperm progressive motility are suggested.

关键词： candidate SNPs Han Chinese idiopathic male infertility semen quality

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Ligase-based ultrasensitive detection of DNAzyme cleavage product using molecular beacon

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Chinese Chemical Letters 2012年第10期23卷 1177-1180页

作者： Hong Peng Xie Xiang Xian Meng Hongyan Su qing Yun Cai Yong Jun Tan xiao qin huang School of Biology State Key Laboratory of Chemo/Biosensing and ChemometricsCollege of Chemistry and Chemical EngineeringHunan UniversityChangsha 410082China

Detection for deoxyribozyme （DNAzyme） cleavage usually needs complex and time-consuming radial labeling, gel electro- phoresis and autoradiography. A new approach was reported for detection DNAzyme cleavage product based on molecular beacon （MB）. Part of the loop of MB was designed to complementary to DNAzyme cleavage product. MB was employed to monitor ligation process of RNA/DNA complex and to convert directly cleavage product information into fluorescence signal. Detection limit of the assay is 0.02 nmol/L. The cleavage product of 8-17 DNAzyme against HCV-RNA was detected perfectly based on this assay. The method is fast, simple and ultrasensitive, which might hold great promise in DNAzyme reaction and DNAzyme gene therapy.

关键词： Molecular beacon Ligation DNAzyme cleavage HCV-RNA

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Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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Journal of Genetics and Genomics 2013年第10期40卷 543-548页

作者： xiao-Chen Chen Hao Sun Chang-Jun Zhang Ying Zhang Ke-qin Lin Liang Yu Lei Shi Yu-Fen Tao xiao-qin huang Jia-You Chu Zhao-qing Yang Department of Medical Genetics Institute of Medical BiologyChinese Academy of Medical Sciences and Peking Union Medical College935 Jiaoling RoadKunming 650118YunnanChina Reproductive Medicine Center Hubei University of MedicineShiyan 442000China

The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2）（Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI）（Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.

关键词： CAG Gene Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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HLA polymorphism of the Zhuang population reflects the common HLA characteristics among Zhuang-Dong language-speaking populations

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第6期12卷 428-435页

作者： Li SHI xiao-qin huang Lei SHI Yu-fen TAO Yu-feng YAO Liang YU Ke-qin LIN Wen YI Hao SUN Katsushi TOKUNAGA Jia-you CHU Institute of Medical Biology Chinese Academy of Medical Sciences & Peking Union Medical College Kunming 650118 China Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan

A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, transplantation, and anthropology. In the present study, we report the comprehensive HLA-A, HLA-B, HLA-C, and HLA-DRB1 alleles and haplotypes in the Zhuang population of southern China for the first time. A total of 13 HLA-A, 24 HLA-B, 22 HLA-C, and 18 HLA-DRB1 were identified in 104 Zhuang individuals. The frequencies of HLA-A＊11：01, A^＊02：07, A^＊24：02, A^＊02：03, and A^＊33：03 on A loci, B^＊15：02, B^＊58：01, B^＊46：01, and B^＊13：01 on B loci, C^＊03：04, C^＊08：01, C^＊01：02, C^＊03：02, and C^＊07：02 on C loci, and DRBl＊15：01, DRBl^＊16：02, DRB1^＊14：01, DRBl^＊15：02, and DRBI^＊03：01 on the DRB1 loci were 〉10%. The A^＊33：03-C^＊03：02-B^＊58：01-DRBl^＊03：01 and A^＊02：07-C^＊01：02- B^＊46：01-DRB1^＊14：01 haplotypes were predominant in the Zhuang. The phylogenetic tree, as well as the analysis of haplotypes, suggested that the Zhuang are genetically similar to southern Chinese populations, especially the Zhuang-Dong language-speaking populations, such as the Bouyei, Dai, and Maonan. Even though the Zhuang and southern Chinese populations shared common alleles and haplotypes, the Zhuang has maintained its unique genetic characteristics.

关键词： Human leukocyte antigen (HLA) alleles Haplotypes Zhuang population

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Application of numerical simulation on optimum design of two-dimensional sedimentation tanks in the wastewater treatment plant

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Journal of Environmental Sciences 2003年第3期15卷 346-350页

作者： ZENG Guang-ming,ZHANG Shuo-fu, qin xiao-sheng, huang Guo-he, LI Jian-bing (Department of Environmental Science and Engineering of Hunan University, Changsha 410082, China.) Department of Environmental Science and Engineering of Hunan University Changsha 410082 Chin

The paper establishes the relationship between the settling efficiency and the sizes of the sedimentation tank through the process of numerical simulation, which is taken as one of the constraints to set up a simple optimum designing model of sedimentation tank. The feasibility and advantages of this model based on numerical calculation are verified through the application of practical case.

关键词： numerical simulation sedimentation tank optimum design

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Conformational flexibility of β-secretase: molecular dynamics simulation and essential dynamics analysis

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Acta Pharmacologica Sinica 2004年第6期25卷 3-11页

作者： Bing XIONG, xiao-qin huang, Ling-ling SHEN, Jian-hua SHEN 2,xiao-min LUO, Xu SHEN, Hua-liang JIANG2, Kai-xian CHENDrug Discovery and Design Center, State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica,Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 201203, China Drug Discovery and Design Center State Key Laboratory of Drug Research Shanghai Institute of Materia Medica Shanghai Institutes for Biological Sciences Chinese Academy of Sciences Shanghai 201203 China

AIM: Based on the structural analysis to reveal the mechanism of ligand binding to b-secretase and the specificityof each binding sub-site. METHODS: Molecular dynamics was used to simulate on the ligand free b-secretase andligand bound b-secretase. The trajectories were analyzed using the essential dynamics, and the significant confor-mational change was illustrated employing the DynDom program. RESULTS: The essential dynamics and DynDomanalyses clearly showed that the b-secretase experienced a large conformational change upon the substrate orinhibitor binding. The flap structure adopted a swing motion, gradually covering the active site to facilitate theligand binding process. Residues Ser86 and Ile87 served as the hinge point. Inhibitor-enzyme interaction analysisrevealed that residues at P2, P1, and P1 positions of the inhibitor were very important for the binding, and residuesat P2 and P3 positions may be modified to improve the binding specificity. S3 subsite of the enzyme still hadspace to modify the inhibitors in increasing the binding affinity. CONCLUSION: The information presented hereis valuable and could be used to identify small molecular inhibitors of b-secretase.

关键词： molecular dynamics secretase essential dynamics computer simulation Alzheimer disease

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Comparative study of cytophenotype and oncogene in tongue squamous cell carcinoma with regional and non-regional metastasis

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中国口腔颌面外科杂志 2008年第B5期6卷 181-182页

作者： xiao Feng huang qin Gang Hu Wen Hui Jiang Xiang Hua Chen Department of Oral Pathology The Nanjing StomatologicalHospital the Affiliated Hospital of Medical College NanjingUniversity. Nanjing 210008China

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Cerebral venous sinus thrombosis in polycythemia vera patients with JAK2V617F mutation

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Chinese Medical Journal 2021年第10期134卷 1251-1253页

作者： Hui-Xin Shen xiao-qin huang Chun-Qiu Fan Yan-Xiang Cao Hong Zhao Jian-Gang Duan Department of Neurology Xuanwu HospitalCapital Medical UniversityBeijing 100053China Department of Radiology Xuanwu HospitalCapital Medical UniversityBeijing 100053China Department of Hematology Xuanwu HospitalCapital Medical UniversityBeijing 100053China Department of Emergency Xuanwu HospitalCapital Medical UniversityBeijing 100053China

To the Editor:Polycythemia vera(PV)[1]is a chronic progressive myeloproliferative neoplasm(MPN)characterized by clonal proliferation of myeloid *** condition presents with a high number of abnormal erythrocytosis,leukocytosis,and thrombocytosis,which may lead to venous *** venous sinus thrombosis(CVST)is a rare presentation of PV in clinical *** of PV are often insidious during the onset,and a lack of specific clinical manifestations of CVST may lead to delayed *** date,diagnosis and management of CVST in PV remain a challenge due to the low incidence and limited *** this study,we presented five cases of PV with JAK2V617F mutation,and CVST was the first manifestation of *** detailed characteristics are summarized in Table *** Institute Ethics Committee of Xuanwu Hospital,Capital Medical University approved this study(approval number 2019119).The authors certify that they have obtained all appropriate patient consent forms.

关键词： venous Cerebral thrombosis

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Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T〉C and c.457G〉A in Cystathionine Beta-Synthase Gene

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Chinese Medical Journal 2018年第19期131卷 2368-2370页

作者： Hong An Chun-Qiu Fan Jian-Gang Duan Yi Ren Kai Dong Qian Zhang Xun-Ming Ji xiao-qin huang Department of Neurology Xuanwu Hospital Capital Medical University Beijing 100053 China Department of Neurosurgery Xuanwu Hospital Capital Medical University Beijing 100053 China

To the Editor：Hyperhomocysteinemia （HHcy） is an important risk factor for atherothrombotic disease and venous thrombosis.[1] Normally,homocysteine （Hcy） is either remethylated to methionine （Met） by a Vitamin B12-dependent reaction or betaine as the methyl donor,or trans-sulfurated to cysteine through a pyridoxine-dependent *** on plasma level of total Hcy,HHcy is typically classified into three groups as follows：mild （tHcy 15-30 μmol/L）,moderate （tHcy 30-100 μmol/L）,and severe （tHcy 〉100 μmol/L）.[2] Severe HHcy is rare and most commonly caused by inherited deficiency of cystathionine beta-synthase （CBS）,or less frequently,ofmethylenetetrahydrofolate reductase （MTHFR） *** presentations of this metabolic disorder include developmental delay,intellectual disability,epilepsy,ectopia lentis,myopia,hypopigmentation of the skin and hair,marfanoid habitus,and thromboembolic disorders.[3] These manifestations are often overlooked in the early stage until the occur of thrombotic events like cerebral venous sinus thrombosis （CVST）.

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CAG-repeat variant in the polymerase γ gene and male infertility in the Chinese population： a meta-analysis

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Asian Journal of Andrology 2011年第2期13卷 298-304页

作者： Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Yu-Feng Yao Lei Shi Jin-Bao Chen Ke-qin Lin Liang Yu Li Shi xiao-qin huang Hao Sun Jia-You Chu Department of Medical Genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China Reproductive of Medical Research Centre of People＇s Hospital of Shiyan 442000 Shiyan China

Several studies have reported a relationship between the length of the CAG-repeat in the polymerase y （POLG） gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-CAG-repeat length was analyzed in 535 healthy individuals from six Chinese Han populations living in different provinces. The frequencies of IO-CAG alleles and genotypes were high （97.38 and 94.13%, respectively）, with no significant difference among the six Chinese Han populations. Furthermore, we determined the distribution of the POLG-CAG-repeat in 150 infertile men and 126 fertile men. Our study suggested that the distributions of POLG-CAG-repeat alleles and genotypes were not significantly different between infertile （95.67 and 92.67%, respectively） and fertile men （97.22 and 94.44%, respectively）. In a subsequent meta-analysis, combining our data with data from previous studies, a comparison of the CAG-repeat alleles in fertile versus infertile men showed no obvious risk for male infertility associated with any particular allele （pooled odds ratio （0R）=0.94; 95% confidence interval （CI）： 0.60-1.48）. The significance level was not attained with any of the following genetic models： homozygote comparison （not lO/not 10 versus 10110： OR= 1.34; 95% Ch 0.66-2.72）, heterozygote comparison （lO/not 10 versus 10/10： OR= 1.04; 95% Ch 0.78-1.38）, dominant model comparison （not lO/not 10＋ 101 not 10 versus 10110. OR= 1.08; 95% Ch 0.79-1.47） and recessive genetic comparison （not lO/not 10 versus lO/not 10＋ 10/10- OR= 1.31; 95% Ch 0.68-2.55）. In conclusion, there is no significant difference of the frequencies of POLG-CAG-repeat variants among six Chinese Han populations, and this polymorphism may not be associated with Chinese male infertility. On the basis of a meta-analysis, there is no obvious association between CAG-repeat variants of the POLG gene and male infertility.

关键词： case-control study male infertility meta-analysis POLG-CAG-repeat

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