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Alteration of ERβ gene Rsal polymorphism may contribute to reduced fertilization rate and embryonic developmental competence

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Asian Journal of Andrology 2011年第2期13卷 317-321页

作者： Qiu-Fang Zhang Huai-Liang Feng Lan Zhao Ping Liu Li Li Jie Yan Jie Qiao Center of Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital Beijing 1000191 China Center for Human Reproduction North Shore University Hospital NYU School of Medicine Manhasset NY 11030 USA

This paper aims to determine the possible role of estrogen receptor-β （ERβ） gene Rsal polymorphism on sperm fertility and early embryonic development in humans. Three groups of Chinese men were recruited： in vitro fertilization （IVF） group, including 374 couples who underwent conventional IVF; intracytoplasmic sperm injection （ICSI） group, including 294 couples who underwent an ICSI procedure using ejaculated sperm; and azoospermic group, consisting of 197 couples who underwent ICSI using either testis or epididymis sperm. Rsal polymorphism in the ERβ gene was detected by polymerase chain reaction （PCR）-restriction fragment length polymorphism technique; fertilization and high-quality embryo rates were evaluated for each group. In each group, no significant differences were found in the overall rates of fertilization and high-quality embryos among GG, AG and AA genotypes. However, the proportion of cycles possessing a satisfactory high-quality embryo rate with the AA genotype was significantly lower than that in the wild-type GG genotype from each group. These results demonstrated that sperm possessing the ERβ RsalA genotype may have reduced fertilization ability and decreased early embryonic developmental potential, which could directly or indirectly contribute to the low fertilization rate and early embryonic developmental arrest in some cases.

关键词： embryo development estrogen receptor-β gene fertilization intracytoplasmic sperm injection in vitro fertilization poly-morphism

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polymorphism and crystal transformation of penicillin sulfoxide

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Frontiers of Chemical Science and Engineering 2011年第4期5卷 442-447页

作者： Dingding JING Yongli WANG Zhijian CHEN Lina ZHOU Jingkang WANG State Key Laboratory for Chemical Engineering School of Chemical Engineering and TechnologyTianjin UniversityTianjin 300072China

Penicillin sulfoxide is the intermediate for the synthesis of 7-amino-3-desacetoxycephalosporanic acid which is one of the most important nucleuses of cephalosporin *** this contribution,two crystal structures of penicillin sulfoxide(forms I and II)were determined by X-ray diffraction,and their thermotropic properties were investigated by differential scanning calorimetry(DSC).Furthermore,the transformation of form II to form I was studied quantitatively by Raman spectroscopy,and its rates at different temperatures were *** results indicate that penicillin sulfoxide is more stable as form I,and the temperature plays an important role in the crystal transformation.

关键词： penicillin sulfoxide crystallization poly-morphism crystal transformation Raman spectroscopy

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Correlation between KCNQ1 gene polymorphism and type 2 diabetes mellitus in Huaihai region of China

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Family Medicine and Community Health 2014年第1期2卷 15-19页

作者： Xing Gao Dongmei Lv Yan Wang Tao Wang Wei Li Yanbo Zhang Yaqin Wei Jiali Zhang Qian Lu Xiaoxing Yin Laboratory of New Drugs and Clinical Application Xuzhou Medical CollegeXuzhou 221000China Pharmacy Department The affiliated Hospital of Xuzhou Medical CollegeXuzhou 221000China Endocrinology Department The affiliated Hospital of Xuzhou Medical CollegeXuzhou 221000China School of Pharmacy Xuzhou Medical CollegeXuzhou 221000China

Objective:This article aims to discuss the distribution of KCNQ1 gene polymorphism in the Chinese Han population in the Huaihai region of China and the correlation between KCNQ1 gene polymorphism and incidence of type 2 diabetes(T2DM).Methods:From December 2010 to July 2011,200 T2DM inpatients and outpatients in the Endocrinology Department of the Affiliated Hospital of Xuzhou Medical College were selected as the case group and,200 healthy people identified by the health examination center in the same re-gion were selected as the control *** polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)test was used to examine the gene polymorphism of the two ***:(1)Analysis on the control group showed that at the KCNQ1 rC237892 locus,the genotype frequencies of CC,CT and TT were 36.0%(72/200),51.0%(102/200)and 13.0%(26/200)respectively,and the allelic frequencies of C and T were 61.5%(246/400)and 38.5%(154/400)*** on the case group showed the genotype frequencies of CC,CT and TT were 47.5%(95/200),44.0%(88/200)and 8.5%(17/200)respectively,and the allelic frequencies of C and T were 69.5%(278/400)and 30.5%(122/400)*** between the genotype distributions and allelic frequencies of the two tested groups at KCNQ1 rC237892 locus showed differences with statistical significance(P0.05).Conclusion:polymorphism at KCNQ1 rs2237892 locus may be correlated to the incidence of T2DM in the Chinese Han population in Huaihai region of China;polymorphism at rsl51290 locus may be irrelevant to the incidence of T2DM in the Chinese Han population in Huaihai region of China.

关键词： Type 2 diabetes mellitus KCNQ1 Genotype distribution Allelic frequency poly-morphism Mononucleotide

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Peroxisome Proliferator-activated Receptor-γ2 Pro12Ala and C-689T polymorphisms and Haplotypes Affect the Profiles of Coronary Heart Disease in Diabetic Chinese People

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South China Journal of Cardiology 2008年第1期9卷 1-9页

作者：黎简平程龙献何美安邬堂春 Department of Cardiovascular Internal Medicine Union Hospital Tongji Medical College Huazhong University of Science and Technology Institute of Occupational Medicine Tongji Medical CollegeHuazhong University of Science and Technology

Objectives Peroxisome proliferator-activated receptor-γ2（PPARγ2） variant Pro12Ala was demonstrated with risk of coronary heart disease （CHD） and type 2 diabetes mellitus （T2DM）. Another variant C-689T in the promoter was reported with lower receptor activity but lack of reports on association between C-689T and CHD or T2DM. Methods A total of 351 subjects without CHD and T2DM （controls） and 125 patients with CHD and T2DM （cases） were enrolled in our case-control study. polymerase chain reaction-restricted fragments length polymorphism （PCR-RFLP） was used to detect Pro12Ala and C-689T polymorphisms. And effects on CHD merged with T2DM of the two polymorphisms were analyzed in individual and haplotype analyses. Results In the study, Pro12Pro, Pro12Ala and Ala12Ala genotype frequencies were 92.9%, 6.8% and 0.3% in controls; 92.8%, 7.2% and 0.0% in cases respectively whilst CC, CT and TT genotype frequencies were 93.4%, 6.3% and 0.3% in controls; 92.8%, 7.2% and 0.0% in cases respectively. Pro12Ala and C-689T polymorphisms were in strong linkage disequilibrium （D＇=0.81, P=0.000） and the observed haplotype frequency of Pro-C, Pro-T, Ala-C and Ala-T was 0.957, 0.006, 0.008 and 0.028 respectively. No significant associations were detected between the two polymorphisms and CHD merged with T2DM in either individual or haplotype analyses. In subjects with obesity [body mass index （BMI）≥25 kg/m^2], we found that both Pro12Ala and C-689T polymorphisms were associated with BMI. In haplotype analyses, we found that Pro12Ala and C-689T haplotypes had associations with systolic blood pressure in total population, with BMI, waist circle and total cholesterol（TC） in obesity subgroup and with fasting blood glucose and TC in males. Conclusions PPARγ2 Pro12Ala and C-689T polymorphisms and haplotypes affect the profiles of CHD merged with T2DM in Chinese Han people.

关键词： peroxisome proliferator-activated receptor-γ2 coronary heart disease type 2 diabetes mellitus poly-morphism haplotype

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polymorphism in cardiovascular diseases(CVD)susceptibility loci in the azores islands(Portugal)

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Open Journal of Genetics 2011年第3期1卷 48-53页

作者： Mafalda Raposo Paul Sousa Stefan Nemeth Ana Rita Couto Margarida Rodrigues Santos Joao Paulo Pinheiro Maria Joao Peixoto Christian Oberkanins Nadiya Kazachkova Teresa Cymbron Manuela Lima Jacome Bruges-Armas Center of Research in Natural Resources(CIRN)and Department of Biology University of the AzoresPonta DelgadaPortugal Specialized Service of Epidemiology and Molecular Biology(SEEBMO) Hospital of Santo EspiritoAngra do HeroismoPortugal Institute for Molecular and Cell Biology(IBMC) University of PortoPortoPortugal ViennaLab Diagnostics GmbH ViennaAustria

Background: Atherosclerosis and thrombosis are the major manifestations underlying cardiovascular diseases (CVD), which are the leading cause of mortality and morbidity worldwide. Both result from an interaction between genetic and environmental risk factors. The goal of our study was to evaluate several polymorphisms identified as predisposing factors to atherosclerosis and thrombosis. Material and Methods: A series of 155 healthy unrelated individuals of Azorean origin were analyzed using the CVD StripAssay (ViennaLab Diagnostics, Austria) for the most established polymorphisms involved in blood coagulation (F2, F5, F13A1, FGB), fibrinolitic system (SERPINE1), platelet adhesion (ITGB3), homocysteine metabolism (MTHFR), reninangio-tensin system (ACE) and lipid metabolism (APOE). Results: No significant differences were observed in allelic frequencies when comparing our data to mainland Portugal. Group stratification according to the number of “increased” risk alleles, demonstrated that 116/155 (75%) individuals belong to the moderate risk group (5 - 10 risk alleles). Conclusions: Although acknowledging the fact that the allelic states at the analysed loci lack predictive value, the fact that a high frequency of individuals presents at least 5 risk alleles (124/155;80%) is important for the establishment of the appropriate preventive measures in the Azorean population.

关键词： Atherosclerosis Thrombosis Cardiovascular Diseases Susceptibility Genes Genetic Risk poly-morphism

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Mitochondrial ATP 6 and 8 polymorphisms in irritable bowel syndrome with diarrhea

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World Journal of Gastroenterology 2013年第24期19卷 3847-3853页

作者： Wei-Feng Wang Xin Li Ming-Zhou Guo Jian-De Chen Yun-Sheng Yang Li-Hua Peng Yong-Hua Wang Chun-Yan Zhang Hui-Hui Li Department of Gastroenterology and Hepatology Chinese PLA General Hospital Department of Internal Medicine Chinese PLA General Hospital Division of Gastroenterology and Hepatology Department of Internal Medicine University of Texas Medical Branch Galveston TX 77555-0764 United States Department of Gastroenterology Chinese Navy General Hospital

AIM: To investigate mitochondrial ATP 6 and 8 poly-morphisms in the colon and ileum of patients with ir-ritable bowel syndrome with diarrhea (IBS-D). METHODS: Twenty-eight patients fulfilling the Rome Ⅲ criteria for IBS-D and 28 healthy subjects were in-vestigated. All study participants underwent screening colonoscopy and mucosal biopsies were obtained from the colon and/or terminal ileum. Genomic DNA was ex-tracted from specimens based on standard protocols. Mitochondrial ATP (MT-ATP) 6 and 8 genes in speci-mens were polymerase chain reaction amplified and sequenced. Sequencing data were analyzed via Variant Reporter Software and compared with the reference sequence from Genbank (accession No. NC_012920) to indicate possible polymorphisms. The protocol was registered at *** as NCT01028898. RESULTS: Twenty-five polymorphic sites of MT-ATP 6 and 8 genes were detected and 12 of them were missense mutations. A median of two polymorphic sites in MT-ATP genes was found in colon specimens of controls while a median of three polymorphic sites was noted in patients with IBS-D (Mann-Whitney test, P=0.012). The variants of the colon and ileum speci-mens from the same subjects were identical in all but one case. Symptom duration in IBS was not found to be a significant factor associated with the mtDNA polymorphism (Spearman correlation, P=0.592). The mitochondrial DNA change at 8860 was present in all cases of both groups. The frequency of the 8701 poly-morphism was found to be the second most frequent; however, no statistical difference was noted between the groups (χ2 test, P=0.584). CONCLUSION: Patients with IBS-D have a higher inci-dence of MT-ATP 6 and 8 polymorphisms than healthy subjects, implying that the mtDNA polymorphism may play a role in IBS-D.

关键词： Irritable bowel syndrome Diarrhea Mito-chondrial ATP 6 gene Mitochondrial ATP 8 gene poly-morphism

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