Na-K-2C1转运蛋白基因5′端GT重复序列多态性与新疆哈萨克民族原发性高血压的相关性

目的:探讨研究Na-K-2Cl转运蛋白(NKCC2,SLC12A1,BSC-1)基因GT重复序列多态性与新疆哈萨克族人原发性高血压(EH)的关系.方法:以人群为基础进行病例-对照研究,随机选取新疆牧区30～55岁的哈萨克族牧民303例(EH患者152例,正常对照151例),采用经典的饱和酚/氯仿抽提法提取白细胞基因组DNA,运用荧光标记多聚酶链式反应(PCR)技术、毛细管电泳和Genetic Profiler自动分析软件进行微卫星基因组扫描分析技术,根据片断大小分离等位基因.检测EH患者与正常对照者的NKCC2基因GT重复序列多态性.结果:在所有研究人群中NKCC2基因重复序列存在14种等位基因(A1～A14),扩增长度为210～238 bp,其频率介于0.002～0.281,以扩增长度为224 bp的A9等位基因最为常见,其次为A5和A8,分布符合Hardy-Weinberg遗传平衡定律,GT重复多态杂合率为0.812,多态信息量为0.803.EH人群NKCC2基因GT重复多态分布与正常人群差异无统计学意义(x2=16.885,P＞0.05).结论:NKCC2基因5′端GT重复多态性标记与新疆哈萨克民族EH可能不相关.     

新疆哈萨克民族血管紧张素原基因GT重复序列多态性与高血压病相关性研究

目的探讨研究血管紧张素原基因3'端GT重复序列多态性与新疆哈萨克族人原发性高血压的关系.方法以人群为基础进行病例-对照研究,应用PCR扩增和毛细管电泳和GeneticProfiler自动分析软件进行微卫星基因组扫描分析技术,检测89例原发性高血压患者与81例正常对照者的AGT的3'端GT重复序列多态性.结果血管紧张素原基因3'端GT重复序列存在13种等位基因按片段由小至大分别命名为A1、A2、A3……(GT的重复次数依次为13、14、15……),扩增长度为160bp-184bp,其频率介于0.003～0.197间.以扩增片段长度为170bp的A6等为基因最为常见,其次为A3和A4,分布符合Hardy-Weinberg遗传平衡定律.该位点杂合度为0.862,多态信息量为0.847.研究表明,哈萨克族血管紧张素原基因3'端GT重复序列在原发性高血压人群和正常人群的分布无显著性差异(x2=1.773,P＞0.05).结论AGT基因3'端GT重复序列多态性与新疆哈萨克族人高血压病不相关.     

新疆哈萨克族高血压患者内皮型一氧化氮合酶基因G894T多态性研究

目的探讨哈萨克族人群内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压关联性.方法应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县203例哈萨克族高血压病患者和190例正常人群eNOS基因G894T多态性.结果哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为0.74,0.24,0.02和0.81,0.18,0.01,G和T等位基因分布频率分别为0.86,0.14和0.90,0.10,符合Hardy-Weinberg平衡.群体相关分析结果表明eNOS基因的G及T等位基因分布在高血压病组(EH)及正常血压组(NT)差异无显著性(χ2=3.580,P=0.058);基因型频率之间差异无显著性(χ2=4.037,P=0.133).然而男性EH组G等位基因频率(0.90)高于NT组(0.86);T等位基因频率(0.06)低于NT组(0.14).结论 eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关.     

新疆哈萨克族原发性高血压患者内皮型一氧化氮合酶基因G894T多态性研究

目的探讨哈萨克族人群内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压关联性.方法应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县203例哈萨克族高血压病患者和190例正常人群eNOS基因G894T多态性.结果哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为0.74,0.24,0.02和0.81,0.18,0.01,G和T等位基因分布频率分别为0.86,0.14和0.90,0.10,符合Hardy-Weinberg平衡.群体相关分析结果表明eNOS基因的G及T等位基因分布在高血压病组(EH)及正常血压组(NT)差异无显著性(x2=3.580,P=0.058);基因型频率之间差异无显著性(x2=4.073,P=0.133).然而男性EH组G等位基因频率(0.90)高于NT组(0.86);T等位基因频率(0.06)低于NT组(0.14).结论eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关.     

新疆哈萨克族高血压人群的血管紧张素Ⅱ1型受体基因多态性与血脂水平的相关研究

目的 探讨血管紧张素Ⅱ1型受体(AT1R)基因A1166C多态性与新疆哈萨克族原发性高血压(EH)人群血脂水平的关系.方法 收集新疆哈萨克族EH患者296例及正常血压对照者198例遗传血液标本,采用多聚酶链式反应法及限制性片段长度多态性技术(PCR-RFLP)分析AT1R基因A1166C多态性,并用全自动生化检测仪测定所有研究对象的各项血脂生化指标.观察各组基因型及等位基因与血清血脂水平的关系.结果 (1)总胆固醇(TC)和低密度脂蛋白胆固醇(LDL-C)水平在EH人群中高于正常对照人群[TC:(4.91±1.19)mmol/L对(4.43±1.20)mmoVL;LDL-C:(3.36±1.01)mmoVL对(2.94±1.30)mmol/L],两者差异有统计学意义(P＜0.001).(2)在EH人群中偏相关分析结果 显示,TC和LDL-C水平与基因型存在着相关性,即AC基因型携带者TC和LDL-C水平高于AA基因型携带者.结论 在新疆哈萨克族EH人群中TC和LDL-C水平与AT1R基因A1166C多态位点分子变异相关.     

新疆哈萨克族β_2肾上腺素能受体基因G252A和C523T多态性与原发性高血压的关系

目的:探讨β2肾上腺素能受体(β2-AR)基因G252A和C523T单核苷酸多态性(SNPs)与新疆哈萨克族原发性高血压(EH)的相关性。方法:采用多聚酶链式反应-限制性酶切片段长度多态性技术(PCR-RFLP),对新疆哈萨克族人进行β2-AR基因G252A、C523T多态性检测,观察G252A与C523T各等位基因、基因型和联合基因型在EH组和正常血压(NT)组中的分布,分析其与该民族高血压的关系。结果:新疆哈萨克族人存在G252A多态及AA、AG、GG3种基因型和C523T多态及TT、TC、CC3种基因型,各基因型在研究人群中的分布均符合Hardy-Weinberg平衡。两位点6种基因型和4种等位基因频率在EH组和NT组间的分布均无统计学差异((P>0.05)。对G252A的GG基因型、C523T的CC基因型组成联合基因型与其他基因型总和进行分析,在收缩压、舒张压、平均动脉压水平方面差异均无统计学意义(P>0.05)。结论:新疆哈萨克族人β2-AR基因存在G252A与C523T多态性,但这两种多态性可能与哈萨克族高血压不相关。     

新疆哈萨克族β2肾上腺素能受体基因G252A和C523T多态性与原发性高血压的关系

目的:探讨β2肾上腺素能受体(β2-AR)基因G252A和C523T单核苷酸多态性(SNPs)与新疆哈萨克族原发性高血压(EH)的相关性. 方法:采用多聚酶链式反应-限制性酶切片段长度多态性技术(PCR-RFLP),对新疆哈萨克族人进行β2-AR基因G252A、C523T多态性检测,观察G252A与C523T各等位基因、基因型和联合基因型在EH组和正常血压(NT)组中的分布,分析其与该民族高血压的关系.结果:新疆哈萨克族人存在G252A多态及AA、AG、GG3种基因型和C523T多态及TT、TC、CC3种基因型,各基因型在研究人群中的分布均符合Hardy-Weinberg平衡.两位点6种基因型和4种等位基因频率在EH组和NT组间的分布均无统计学差异((P＞0.05).对G252A的GG基因型、C523T的CC基因型组成联合基因型与其他基因型总和进行分析,在收缩压、舒张压、平均动脉压水平方面差异均无统计学意义(P＞0.05). 结论:新疆哈萨克族人β2-AR基因存在G252A与C523T多态性,但这两种多态性可能与哈萨克族高血压不相关.     

新疆哈萨克族人群中血脂水平与AT_1R基因A1166C多态性的相关研究

目的研究新疆哈萨克族人群血脂异常与血管紧张素Ⅱ1型受体基因(AT1R)A1166C多态性之间的相关性。方法采用多聚酶链式反应法及限制性片段长度多态性技术(PCR-RFLP),对新疆哈萨克族296例原发性高血压(EH)患者及198例正常血压对照者的外周血白细胞DNA,进行AT1R基因A1166C多态性检测,并用全自动生化检测仪测定所有研究对象的各项血脂生化指标。结果AA、AC和CC基因型及A、C等位基因在高血压人群和对照人群中分布差异无统计学意义(P>0.05)。但总胆固醇和低密度脂蛋白水平在高血压人群中高于正常对照人群,两者差异有统计学意义(P<0.001)。同时,在高血压人群中偏相关分析结果显示总胆固醇和低密度脂蛋白水平与基因型存在着相关性,即AC基因型携带者总胆固醇和低密度脂蛋白水平高于AA基因型携带者。结论AT1R基因A1166C分子变异与新疆哈萨克族原发性高血压无相关关系。但在高血压人群中总胆固醇和低密度脂蛋白水平与AT1R基因A1166C多态位点分子变异存在着相关性。     

新疆哈萨克族人群中血管紧张素Ⅱ-1型受体基因多态性与原发性高血压的相关性研究

目的:研究血管紧张素Ⅱ-1型受体(AT1R)基因A1166C多态性与新疆哈萨克族原发性高血压(EH)的相关关系。方法:采用多聚酶链式反应法及限制性片段长度多态性技术(PCR-RFLP),对新疆哈萨克族321例EH患者(EH组)及203例正常血压者(对照组)的外周血白细胞DNA,进行AT1R基因A1166C多态性检测,统计分析该位点不同基因型及等位基因频率在EH组和对照组中的分布。结果:AA、AC和CC基因型在EH组的分布频率为0.7664、0.2274和0.0062,在对照组中分别为0.7537、0.2463和0,2组对比差异无统计学意义(P>0.05);A1166与1166C等位基因频率在EH组中分别为0.8801、0.1199,在对照组中分别为0.8768和0.1232,2组相比差异也无统计学意义(P>0.05)。结论:AT1R基因A1166C多态位点分子变异与新疆哈萨克族EH易感可能不相关。     

新疆哈萨克族高血压患者内皮型一氧化氮合酶基因G894T多态性研究

目的 探讨哈萨克族人群内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压关联性。方法 应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县203例哈萨克族高血压病患者和190例正常人群eNOS基因G894T多态性。结果 哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为0．74，0．24，0．02和0．81，0．18，0．01，G和T等位基因分布频率分别为0.86，0．14和0．90，0．10，符合Hardy—Weinberg平衡。群体相关分析结果表明：eNOS基因的G及T等位基因分布在高血压病组(EH)及正常血压组(NT)差异无显著性(χ^2=3．580，P=0．058)；基因型频率之间差异无显著性(χ^2=4．037，P=0．133)。然而男性EH组G等位基因频率(0．90)高于NT组(0．86)；T等位基因频率(0．06)低于NT组(0．14)。结论 eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关。     

Different RBC aggregating properties of the Aalpha2Bbeta2gammaA2 and Aalpha2Bbeta2gammaAgamma' subpopulations of human fibrinogen

Human fibrinogen (TF) has been separated into two fractions: F1 - homodimers with respect to the gamma chain, and F2 - heterodimers composed of gammaA and gamma' polypeptides. Their rouleaux-inducing properties were as follows: (1) both, at the same concentration of 0.8%, were less effective than TF; (2) F1 produced larger rouleaux even under static conditions of a hemocytometer where F2 was silent; (3) F2 induced the process when a suspension was gently sheared between microscopic slides. Since the synthetic peptide gamma'(414-427) inhibited the rouleau formation in a mixture with F2, the C-terminal amino acids of the gamma' polypeptide probably bind the molecule to the cell. The inhibition was feebly visible in the native ratio of F1/F2, implicating a compensatory effect of F1.     

Characterization of two types of fetal hemoglobin: alpha 2G gamma 2 and alpha 2A gamma 2

The effect of differences in G gamma and A gamma fractions of fetal hemoglobin (HbF) on the kinetics of polymerization of HbS-HbF mixtures was studied. We also examined their effect on oxygen affinity, surface hydrophobicity, mechanical stability, and solubility of HbF. Differences in G gamma:A gamma ratio did not affect the polymerization of mixtures of HbF and HbS, suggesting that the inhibitory effect of HbF on the polymerization of HbS is independent of the G gamma:A gamma ratio of HbF and is totally dependent on the fraction of HbF in the mixture. The oxygen equilibrium curve of HbF was not affected by differences in the ratios of G gamma and A gamma in HbF. In contrast, surface hydrophobicity, mechanical stability, and solubility of HbF were affected by differences in the G gamma:A gamma ratio. The higher the G gamma:A gamma ratio, the smaller the elution volume on a TSK Gel SW hydrophobic column in high phosphate buffer. The mechanical stability of HbF was also dependent on the ratio of G gamma:A gamma; stability was greater at higher fractions of A gamma. Differences in the G gamma:A gamma ratio also affected solubility of HbF: HbF containing the higher fraction of G gamma was the more soluble. These data indicate that although alanine at the 136th position of the gamma chains has a stronger surface hydrophobicity than does glycine, this difference does not affect either the polymerization of HbS or the oxygen affinity of HbF.     

Structure-function of Hb Marseille-Long Island [alpha 2 beta 2 N-methionyl-2(NA2) His----Pro

Suspensions of red cells containing Hb Marseille-Long Island showed decreased oxygen affinity and low interaction with 2,3-diphosphoglycerate. Oxygen equilibrium studies of the purified component confirmed these abnormalities. Oxidation rate measurements of carbonmonoxy-Hb Marseille and carbonmonoxy-Hb A by ferricyanide showed an increased rate for the former, suggesting an increased dissociation constant for carbon monoxide. Nuclear Magnetic Resonance spectra in the high field region revealed small changes in the proximal region of the heme pocket. These results indicated that the mutation causes a perturbation at a distance from the mutation site.     

Experimental Investigation of Radiation Shielding Competence of Bi2O3-CaO-K2O-Na2O-P2O5 Glass Systems

The gamma-ray shielding features of Bi₂O₃-CaO-K₂O-Na₂O-P₂O₅ glass systems were experimentally reported. The mass attenuation coefficient (MAC) for the fabricated glasses was experimentally measured at seven energy values (between 0.0595 and 1.33 MeV). The compatibility between the practical and theoretical results shows the accuracy of the results obtained in the laboratory for determining the MAC of the prepared samples. The mass and linear attenuation coefficients (MACs) increase with the addition of Bi₂O₃ and A4 glass possesses the highest MAC and LAC. A downward trend in the linear attenuation coefficient (LAC) with increasing the energy from 0.0595 to 1.33 MeV is found. The highest LAC is found at 1.33 MeV (in the range of 0.092–0.143 cm⁻¹). The effective atomic number (Z_eff) follows the order B1 > A1 > A2 > A3 > A4. This order emphasizes that increasing the content of Bi₂O₃ has a positive effect on the photon shielding proficiencies owing to the higher density of Bi₂O₃ compared with Na₂O. The half value layer (HVL) is also determined and the HVL for the tested glasses is computed between 0.106 and 0.958 cm at 0.0595 MeV. The glass with 10 mol% of Bi₂O₃ has lower HVL than the glasses with 0, 2.5, 5, and 7.5 mol% of Bi₂O₃. So, the A4 glass needs a smaller thickness than the other glasses to shield the same radiation. As a result of the reported shielding parameters, inserting B₂O₃ provides lower values of these three parameters, which in turn leads to the development of superior photons shields.     

First-order antiferromagnetic transitions of SrMn2P2 and CaMn2P2 single crystals containing corrugated-honeycomb Mn sublattices

SrMn₂P₂ and CaMn₂P₂ are insulators that adopt the trigonal CaAl₂Si₂-type structure containing corrugated Mn honeycomb layers. Magnetic susceptibility χ and heat capacity versus temperature T data reveal a weak first-order antiferromagnetic (AFM) transition at the Néel temperature TN=53(1) K for SrMn₂P₂ and a strong first-order AFM transition at TN=69.8(3) K for CaMn₂P₂. Both compounds exhibit isotropic and nearly T-independent χ(T≤TN), suggesting magnetic structures in which nearest-neighbor moments are aligned at ≈120° to each other. The ³¹P NMR measurements confirm the strong first-order transition in CaMn₂P₂ but show critical slowing down above TN for SrMn₂P₂, thus also evidencing second-order character. The ³¹P NMR measurements indicate that the AFM structure of CaMn₂P₂ is commensurate with the lattice whereas that of SrMn₂P₂ is incommensurate. These first-order AFM transitions are unique among the class of (Ca, Sr, Ba)Mn₂ (P, As, Sb, Bi)₂ compounds that otherwise exhibit second-order AFM transitions. This result challenges our understanding of the circumstances under which first-order AFM transitions occur.

The Mn-based 122-type pnictides AMn2Pn2 (A= Ca, Sr, Ba; Pn = P, As, Sb, Bi) have received attention owing to their close stoichiometric 122-type relationship to high-Tc iron pnictides. The undoped Mn pnictides are local-moment antiferromagnetic (AFM) insulators like the high-Tc cuprate parent compounds (1–3). The BaMn2Pn2 compounds crystallize in the body-centered tetragonal ThCr2Si2 structure as in AFe2As2 (A = Ca, Sr, Ba, Eu), whereas the (Ca,Sr)Mn2Pn2 compounds crystallize in the trigonal CaAl2Si2-type structure (4). Recently, density-functional theory (DFT) calculations for the 122 pnictide family have suggested that the trigonal 122 transition-metal pnictides that have the CaAl2Si2 structure might compose a new family of magnetically frustrated materials in which to study the potential superconducting mechanism (5, 6). It had previously been suggested on theoretical grounds that CaMn₂Sb₂ is a fully frustrated classical magnetic system arising from proximity to a tricritical point (7–9).The electrical resistivity ρ and heat capacity Cp versus temperature T of single-crystal CaMn₂P₂ were reported in ref. 10. The compound is an insulator at T = 0 and undergoes a first-order transition of some type at 69.5 K. The Raman spectrum of CaMn₂P₂ at T = 10 K showed new peaks compared to the spectrum at 300 K, whereas the authors’ single-crystal X-ray diffraction measurements showed no difference in the crystal structure at 293 and 40 K. They suggested that the results of the two types of measurements could be reconciled if a superstructure formed below 69.5 K (10). The authors’ magnetic susceptibility χ(T) measurements below 400 K revealed no evidence for a magnetic transition.Here we report the detailed properties of trigonal CaMn₂P₂ and SrMn₂P₂ (11) single crystals. We present the results of single-crystal X-ray diffraction (XRD), electrical resistivity ρ in the ab plane (hexagonal unit cell) versus temperature T, isothermal magnetization versus applied magnetic field M(H), magnetic susceptibility χ(T), heat capacity Cp(H,T), and ³¹P NMR measurements. We find from Cp(T), χ(T), and NMR that CaMn₂P₂ exhibits a strong first-order AFM transition at TN=69.8(3) K whereas SrMn₂P₂ shows a weak first-order transition at TN=53(1) K but with critical slowing down on approaching TN from above as revealed from NMR, a characteristic feature of second-order transitions. Thus, remarkably, the AFM transition in SrMn₂P₂ has characteristics of both first- and second-order transitions. The χ(T) data also reveal the presence of strong isotropic AFM spin fluctuations in the paramagnetic (PM) state above TN up to our maximum measurement temperatures of 900 and 350 K for SrMn₂P₂ and CaMn₂P₂, respectively. This behavior likely arises from spin fluctuations associated with the quasi–two-dimensional nature of the Mn spin layers (12) together with possible contributions from magnetic frustration. Our single-crystal XRD data at room temperature and high-resolution synchrotron XRD data at T = 20 K for SrMn₂P₂ and CaMn₂P₂ demonstrate conclusively that there is no structure change of either compound on cooling below their respective TN.Our studies of SrMn₂P₂ and CaMn₂P₂ thus identify the only known members of the class of materials with general formula AMn2Pn2 containing Mn2+ spins S = 5/2 that exhibit first-order AFM transitions, where A = Ca, Sr, or Ba and the pnictogen Pn= P, As, Sb, or Bi. In particular, only second-order AFM transitions are found in CaMn2As2 (13), SrMn2As2 (13–15), CaMn2Sb2 (8, 9, 16–19), SrMn2Sb2 (16, 19), and CaMn2Bi2 (20).     

Identification of CYP2C9*2 allele in HepG2 cell line

Background Hepatoma is caused by many factors including alcohol, chemicals, viral infection, and chronic inflammation. Cytochrome P450 polymorphism plays an important role in its pathogenesis. CYP2D6, CYP2E1, and CYP1A1 have been identified to be related with hepatic carcinogenesis and tumor size and stage. However, no studies have been performed on CYP2C9, a major CYP in the liver and hepatoma. Aim of the study To identify if there is polymorphism of CYP2C9 in a HepG2 cell line. Methods A pair of primers was used to clone CYP2C9 exon 3 region and subsequently sequenced. The sequence was compared to normal CYP2C9 for identification of any mutation. Results A point mutation was identified. It was located in the amino acid number 144 of CYP2C9 protein with the change of normal amino acid arginine into cysteine, which is the same as identified in poor metabolism patients as homozygous CYP2C9*2. Conclusions There is a mutation (CYP2C9*2/ CYP2C9*2) in a HepG2 cell line. Thus, polymorphism of CYP2C9 may also be involved in the carcinogenesis of hepatoma as CYPs2D6 and 2E1.