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Androgen signaling inhibits de novo lipogenesis to alleviate lipid deposition in zebrafish
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作者 Jing-Yi Jia Guang-Hui Chen +6 位作者 Ting-Ting Shu Qi-Yong Lou Xia Jin Jiang-Yan He Wu-Han Xiao Gang Zhai Zhan Yin 《Zoological Research》 SCIE CSCD 2024年第2期355-366,共12页
Testosterone is closely associated with lipid metabolism and known to affect body fat composition and muscle mass in males.However,the mechanisms by which testosterone acts on lipid metabolism are not yet fully unders... Testosterone is closely associated with lipid metabolism and known to affect body fat composition and muscle mass in males.However,the mechanisms by which testosterone acts on lipid metabolism are not yet fully understood,especially in teleosts.In this study,cyp17a1-/-zebrafish(Danio rerio)exhibited excessive visceral adipose tissue(VAT),lipid content,and up-regulated expression and activity of hepatic de novo lipogenesis(DNL)enzymes.The assay for transposase accessible chromatinwithsequencing(ATAC-seq)results demonstrated that chromatin accessibility of DNL genes was increased in cyp17a1-/-fish compared to cyp17a1+/+male fish,including stearoyl-CoA desaturase(scd)and fatty acid synthase(fasn).Androgen response element(ARE)motifs in the androgen signaling pathway were significantly enriched in cyp17a1+/+male fish but not in cyp17a1-/-fish.Both androgen receptor(ar)-/-and wildtype(WT)zebrafish administered with Ar antagonist flutamide displayed excessive visceral adipose tissue,lipid content,and up-regulated expression and activity of hepatic de novo lipogenesis enzymes.The Ar agonist BMS-564929 reduced the content of VAT and lipid content,and down-regulated acetyl-CoA carboxylase a(acaca),fasn,and scd expression.Mechanistically,the rescue effect of testosterone on cyp17a1-/-fish in terms of phenotypes was abolished when ar was additionally depleted.Collectively,these findings reveal that testosterone inhibits lipid deposition by down-regulating DNL genes via Ar in zebrafish,thus expanding our understanding of the relationship between testosterone and lipid metabolism in teleosts. 展开更多
关键词 cyp17a1 TESTOSTERONE Androgen receptor De novo lipogenesis Fatty acid synthesis
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lncRNA CYP17A1-AS1对喉鳞癌细胞增殖、侵袭、迁移和凋亡的影响 被引量:1
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作者 杨喜科 姜平 付莉萍 《安徽医药》 CAS 2021年第11期2200-2204,共5页
目的探讨lncRNA CYP17A1-AS1在喉鳞癌细胞增殖、侵袭、迁移和凋亡中的作用及其机制。方法实时荧光定量PCR(qRT-PCR)检测喉鳞癌组织和癌旁正常组织中的CYP17A1-AS1表达。在喉鳞癌细胞TU686中转染pcDNA-CYP17A1-AS1,qRT-PCR检测CYP17A1-AS... 目的探讨lncRNA CYP17A1-AS1在喉鳞癌细胞增殖、侵袭、迁移和凋亡中的作用及其机制。方法实时荧光定量PCR(qRT-PCR)检测喉鳞癌组织和癌旁正常组织中的CYP17A1-AS1表达。在喉鳞癌细胞TU686中转染pcDNA-CYP17A1-AS1,qRT-PCR检测CYP17A1-AS1表达,噻唑蓝(methyl thiazolyl tetrazolium,MTT)检测细胞增殖,Transwell检测细胞迁移和侵袭,流式细胞术检测细胞凋亡,蛋白质印迹法(Western blotting)检测细胞周期蛋白D1(Cyclin D1)、基质金属蛋白酶-2(MMP-2)、B细胞淋巴瘤/白血病-2(Bcl-2)、Bcl-2相关X蛋白(Bax)、细胞色素P450c17(CYP17A1)、β-连环蛋白(β-catenin)、c-Myc、survivin蛋白表达。结果癌旁组织、Ⅰ、Ⅱ期喉鳞癌组织、Ⅲ、Ⅳ期喉鳞癌组织CYP17A1-AS1表达量分别为(1.00±0.09)、(0.67±0.07)、(0.31±0.06),与癌旁正常组织相比,喉鳞癌组织中CYP17A1-AS1表达量明显下调(P<0.05)。CYP17A1-AS1过表达显著降低TU686细胞活力、细胞侵袭数、细胞迁移数、Cyclin D1、MMP-2、Bcl-2、CYP17A1、β-catenin、c-Myc和survivin蛋白表达,并提高细胞凋亡率和Bax蛋白水平,均差异有统计学意义(P<0.05)。结论 CYP17A1-AS1可能通过抑制CYP17A1并下调wnt/β-catenin信号通路,进而抑制喉鳞癌细胞的增殖、侵袭和迁移,以及促进其凋亡。 展开更多
关键词 喉肿瘤 鳞状细胞 cyp17A1-AS1 增殖 侵袭 迁移 WNT/Β-CATENIN信号通路
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Cigarette smoking, dietary habits and genetic polymorphisms in GSTT1, GSTM1 and CYP1A1 metabolic genes: A case-control study in oncohematological diseases 被引量:1
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作者 María Belén Cerliani Walter Pavicic +3 位作者 Juan Antonio Gili Graciela Klein Silvia Saba Silvina Richard 《World Journal of Clinical Oncology》 CAS 2016年第5期395-405,共11页
AIM To analyze the association between oncohematological diseases and GSTT1 /GSTM1 /CYP1A1 polymorphisms, dietary habits and smoking, in an argentine hospitalbased case-control study.METHODS This hospital-based case-c... AIM To analyze the association between oncohematological diseases and GSTT1 /GSTM1 /CYP1A1 polymorphisms, dietary habits and smoking, in an argentine hospitalbased case-control study.METHODS This hospital-based case-control study involved 125 patients with oncohematological diseases and 310 control subjects. A questionnaire was used to obtain sociodemographic data and information about habits. Blood samples were collected, and DNA was extracted using salting out methods. Deletions in GSTT1 and GSTM1 (null genotypes) were addressed by PCR. CYP1A1 MspI polymorphism was detected by PCR-RFLP. Odds ratio(OR) and 95%CI were calculated to estimate the association between each variable studied and oncohematological disease.RESULTS Women showed lower risk of disease compared to men(OR 0.52, 95%CI: 0.34-0.82, P = 0.003). Higher levels of education(> 12 years) were significantly associated with an increased risk, compared to complete primary school or less(OR 3.68, 95%CI: 1.82-7.40, P < 0.001 adjusted for age and sex). With respect to tobacco, none of the smoking categories showed association with oncohematological diseases. Regarding dietary habits, consumption of grilled/barbecued meat 3 or more times per month showed significant association with an increased risk of disease(OR 1.72, 95%CI: 1.08-2.75, P = 0.02). Daily consumption of coffee also was associated with an increased risk(OR 1.77, 95%CI: 1.03-3.03, P = 0.03). Results for GSTT1, GSTM1 and CYP1A1 polymorphisms showed no significant association with oncohematological diseases. When analyzing the interaction between polymorphisms and tobacco smoking or dietary habits, no statistically significant associations that modify disease risk were found. CONCLUSION We reported an increased risk of oncohematological diseases associated with meat and coffee intake. We did not find significant associations between genetic polymorphisms and blood cancer. 展开更多
关键词 Cancer Oncohematological disease Casecontrol study Lifestyle Diet Tobacco XENOBIOTIC metabolizing genes GSTT1 GSTM1 CYP1A1
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CHROMOSOME 17P MAY HARBOR MULTIPLE TUMOR SUPPRESSOR GENES ASSOCIATED WITH PRIMARY GLIOBLASTOMA MULTIFORME
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作者 胡杰 江澄川 +2 位作者 吴浩强 彭颂先 唐婉君 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2002年第1期60-63,共4页
Objective: To investigate whether deletion of chromosome 17 is involved in the carcinogenesis of primary glioblastoma multiforme and to localize the possible common deletion region in the aforementioned chromosome. Me... Objective: To investigate whether deletion of chromosome 17 is involved in the carcinogenesis of primary glioblastoma multiforme and to localize the possible common deletion region in the aforementioned chromosome. Methods: Polymerase chain reaction-based microsatellite analysis was used to assess loss of heterozygosity (LOH) on chromosome 17 in 20 primary glioblastoma multiforme (GBM). Fifteen fluorescent dye-labeled polymorphic markers were used. Results: Thirteen of twenty (65%) GBM displayed LOH on at least one marker of chromosome 17p. Two tumors showed either LOH or non-informativeness on all markers tested. The most frequent LOH was observed at loci including D17s799 (53.3%), D17s1852 (53.8%), D17s938 (63.20/o), D17s831 (55.6%). The loci D17s831 (on 17p13) and D17s799–D17s1852 (17p11.2–p12) are distal and proximal to p53 respectively. The frequencies of LOH at all loci examined on chromosome 17q were relatively low (<30%). None of informative loci exhibited microsatellite instability in this study. Conclusion: Loss of genetic material on chromosome 17p may play an important role in the pathogenesis of GBM. Besides the well-known TSG p53 on 17p, other unknown TSCs associated with GBM may be present on the chromosomal regions 17p13 and 17p11.2–p12, which are distal and proximal to p53 respectively. 展开更多
关键词 Loss of heterozygosity GLIOBLASTOMA Tumor suppressor genes Chromosome 17
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Corrigendum to: Expression profiles of sex-related genes in gonads of genetic male Takifugu rubripes after 17β-estradiol immersion
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作者 HU Peng LIU Bin +3 位作者 MA Qian LIU Shufang LIU Xinfu ZHUANG Zhimeng 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2019年第5期1789-1789,共1页
The original version of this article unfortunately contained a mistake. The publication year in the header on the first page (p.1113) of this article was incorrect. The corrected publication year is given below:
关键词 SEX-RELATED genes TAKIFUGU rubripes 17Β-ESTRADIOL IMMERSION
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Successful Production of an All-Female Common Carp (Cyprinus carpio L.) Population Using cyp17a1-Deficient Neomale Carp 被引量:11
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作者 Gang Zhai Tingting Shu +10 位作者 Kuangxin Chen Qiyong Lou Jingyi Jia Jianfei Huang Chuang Shi Xia Jin Jiangyan He Donghuo Jiang Xueqiao Qian Wei Hu Zhan Yin 《Engineering》 SCIE EI 2022年第1期181-189,共9页
Due to sexual dimorphism in the growth of certain cultured fish species,the production of monosex fishes is desirable for the aquaculture industry.Nowadays,the most widely practiced technique available for the mass pr... Due to sexual dimorphism in the growth of certain cultured fish species,the production of monosex fishes is desirable for the aquaculture industry.Nowadays,the most widely practiced technique available for the mass production of monosex fish populations is sex steroid-induced sex reversal.Here,a novel strategy for the successful production of all-female(AF)common carp(Cyprinus carpio L.),to take advantage of the sexual dimorphism in growth documented in this species,has been developed using genetic engineering via single gene-targeting manipulation without any exogenous hormone treatments.Male and female heterozygous cyp17a1-deficient common carp were first obtained using the clustered regularly interspaced short palindromic repeats/CRISPR-associated endonuclease 9(CRISPR/Cas9)technique.An all-male phenotype for homozygous cyp17a1-deficient carp,regardless of the individuals’sexdetermination genotypes(XY or XX),has been observed.A male-specific DNA marker newly identified in our laboratory was used to screen the neomale carp population with the XX genotype from the cyp17a1-deficient carp.These neomale carp develop a normal testis structure with normal spermatogenesis and sperm capacity.The neomale common carp were then mated with wild-type(WT)females(cyp17a1^(+/+)XX genotype)using artificial fertilization.All the AF offspring sample fish from the neomale-WT female mating were confirmed as having the cyp17a^(1+/-)XX genotype,and normal development of gonads to ovaries was observed in 100.00%of this group at eight months post-fertilization(mpf).A total of 1000 carp fingerlings,500 from the WT male and female and 500 from the neomale and WT female mating,were mixed and reared in the same pond.The average body weight of cyp17a1^(+/-)XX females was higher by 6.60%(8 mpf)and 32.66%(12 mpf)than that of the control common carp.Our study demonstrates the first successful production of a monosex teleost population with the advantages of sexual dimorphism in growth using genetic manipulation targeting a single locus. 展开更多
关键词 Common carp Sexual dimorphism Growth cyp17a1 Sex steroids All-female population
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Role of the Pentanucleotide (tttta)_n Polymorphisms of CYP11αGene in the Pathogenesis of Hyperandrogenism in Chinese Women with PolycysticOvary Syndrome 被引量:2
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作者 谭丽 朱桂金 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2005年第2期212-214,共3页
Summary: To determine the (tttta) n repeat polymorphisms at the promoter region of CYP11α gene, and study its linkage to hyperandrogenism of polycystic ovary syndrome (PCOS) in Chinese women, a case-control study w... Summary: To determine the (tttta) n repeat polymorphisms at the promoter region of CYP11α gene, and study its linkage to hyperandrogenism of polycystic ovary syndrome (PCOS) in Chinese women, a case-control study was conducted in the Reproductive Medical Center of the Second Affiliated Hospital of Zhengzhou University (Zhengzhou, China). 96 PCOS patients and 78 healthy control women were included. CYP11α (tttta) n repeat-polymorphism genotyping analysis was performed by using polymerase chain reaction (PCR). Serum pituitary hormone and total testosterone levels were measured by ELISA. 4 different CYP11α (tttta) n allelles were identified, corresponding to 4-, 6-, 8-, and 9-repeat-unit alleles. The frequency and distribution of these alleles are 0.16, 0.33, 0.38, and 0.13 respectively in PCOS patients, as compared with 0.20, 0.34, 0.35, and 0.11 respectively in healthy controls. There were no significant differences between these two groups. Moreover, no correlation between the polymorphism of CYP11α gene and serum testosterone level of patients with PCOS and controls was observed. It is concluded that microsatellite polymorphism (tttta) n of gene CYP11α exists in Chinese women and the polymorphism of CYP11α gene does not play an important role in the pathogenesis of Chinese patients with PCOS, especially in patients with hyperandrogenism. 展开更多
关键词 CYP11α gene polycystic ovary syndrome polymorphism HYPERANDROGENISM molecular genetics
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3种多环芳烃对海胆细胞色素 CYP17A1 基因表达的影响
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作者 刘帅 宿甜甜 +3 位作者 刘长发 魏海峰 赵肖依 宋雪 《生态毒理学报》 CAS CSCD 北大核心 2020年第5期345-351,共7页
为揭示不同种类多环芳烃(PAHs)污染物对中间球海胆(Strongylocentrotus intermedius)的生态毒理效应,研究了不同浓度的苯并(a)芘(1、5和20μg·L-1)以及2种烷基多环芳烃3-甲基菲(5、10和100μg·L-1)和2-甲基蒽(5、10和50μg... 为揭示不同种类多环芳烃(PAHs)污染物对中间球海胆(Strongylocentrotus intermedius)的生态毒理效应,研究了不同浓度的苯并(a)芘(1、5和20μg·L-1)以及2种烷基多环芳烃3-甲基菲(5、10和100μg·L-1)和2-甲基蒽(5、10和50μg·L-1)对海胆细胞色素CYP17A1基因表达的影响。结果表明,随着暴露时间的增加,不同浓度的3种多环芳烃对海胆细胞色素CYP17A1基因表达产生不同程度的影响。与对照组相比,暴露14 d后,苯并(a)芘20μg·L-1处理组对海胆CYP17A1基因的表达表现出抑制作用(P<0.05);暴露14 d后,3-甲基菲100μg·L-1处理组对海胆CYP17A1基因的表达表现出诱导作用(P<0.05);暴露14 d后,2-甲基蒽50μg·L-1处理组对海胆CYP17A1基因的表达表现出抑制作用(P<0.05)。2-甲基蒽对海胆CYP17A1基因表达的影响比苯并(a)芘、3-甲基菲的影响更为明显。 展开更多
关键词 苯并芘 3-甲基菲 2-甲基蒽 中间球海胆 细胞色素cyp17A1 基因表达
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Mutations in Exons of the CYP17-Ⅱ Gene Affect Sex Steroid Concentration in Male Japanese Flounder(Paralichthys olivaceus)
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作者 MA Ruiqin HE Feng +12 位作者 WEN Haishen LI Jifang SHI Bao SHI Dan LIU Miao MU Weijie ZHANG Yuanqing HU Jian HAN Weiguo ZHANG Jianan WANG Qingqing YUAN Yuren LIU Qun 《Journal of Ocean University of China》 SCIE CAS 2012年第1期99-104,共6页
As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique w... As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique was used to characterize polymorphisms within the coding region of CYP17-Ⅱ gene in a population of 75 male Japanese flounder(Paralichthys olivaceus).Three single nucleotide polymorphisms(SNPs) were identified in CYP17-Ⅱ gene of Japanese flounder.They were c.G594A(p.G188R),c.G939A and c.G1502A(p.G490D).SNP1(c.G594A),located in exon 4 of CYP17-Ⅱ gene,was significantly associated with gonadosomatic index(GSI).Individuals with genotype GG of SNP1 had significantly lower GSI(P < 0.05) than those with geno-type AA or AG.SNP2(c.G939A) located at the CpG island of CYP17-Ⅱ gene.The mutation changed the methylation of exon 6.Indi-viduals with genotype AA of SNP2 had significantly lower serum testosterone(T) level and hepatosomatic index(HSI) compared to those with genotype GG.The results suggested that SNP2 could influence the reproductive endocrine of male Japanese flounder.How-ever,the SNP3(c.G1502A) located in exon 9 did not affect the four measured reproductive traits.This study showed that CYP17-Ⅱ gene could be a potentially useful candidate gene for the research of genetic breeding and physiological aspects of Japanese flounder. 展开更多
关键词 cyp17-Ⅱ gene SNPs sex steroid Japanese flounder
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Associations of Polymorphisms of the <i>CYP</i>1<i>A</i>1 and <i>CYP</i>1<i>B</i>1 Cytochrome P450 Genes with Breast Cancer in Kazakhstan
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作者 T. S. Balmukhanov A. K. Khanseitova +3 位作者 V. G. Nigmatova S. P. Varchenko Sh. Zh. Talaeva N. A. Aitkhozhina 《Advances in Breast Cancer Research》 2013年第3期51-55,共5页
Associations of polymorphisms in rs4646903 site of CYP1A1 and rs1056836 site of CYP1B1 genes with the breast cancer (BC) were studied in two main ethnic groups of Kazakhstan Republic (Kazakhs and Russians). Total numb... Associations of polymorphisms in rs4646903 site of CYP1A1 and rs1056836 site of CYP1B1 genes with the breast cancer (BC) were studied in two main ethnic groups of Kazakhstan Republic (Kazakhs and Russians). Total number of BC patients was 181, controls—397. The statistically significant differences were revealed in allele frequencies (χ2 = 5.93, р = 0.004) and in genotypes distribution (χ2 = 8.71, р = 0.015) in rs4646903 site of CYP1A1 gene in Kazakh but not in Russian group. The study of CYP1В1 rs1056836 site demonstrated differences in genotype distributions (χ2 = 7.48, р = 0.023) between BC patients and controls in Russian but not in Kazakh ethnic group. 展开更多
关键词 Breast Cancer Gene Polymorphism CYP1A1 CYP1B1 Kazakhstan
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Carbon Ion Radiation Inhibits Cell Proliferation Through Down-regulating CYP17 in ER^(+) Breast Cancer Cells
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作者 Feng Xiu Zhou Heng Wang Jufang 《IMP & HIRFL Annual Report》 2019年第1期187-187,共1页
Breast cancer,which bears high incidence and mortality rate,is the most commonly diagnosed cancer in the female around the world.Approximately 70%of breast cancer cases express estrogen receptor.17a-hydroxylase/17,20-... Breast cancer,which bears high incidence and mortality rate,is the most commonly diagnosed cancer in the female around the world.Approximately 70%of breast cancer cases express estrogen receptor.17a-hydroxylase/17,20-lyase(CYP17)belonging to cytochrome P450 enzyme family,is the key enzyme for estrogen synthesis. 展开更多
关键词 cyp17 BREAST mortality
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DNA甲基化修饰对金钱鱼卵巢Cyp17a1表达水平的影响 被引量:1
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作者 周一帆 江政霆 +5 位作者 李雨 焦开智 潘书慧 许芮 李广丽 江东能 《广东海洋大学学报》 CAS CSCD 北大核心 2024年第2期46-53,共8页
【目的】分析DNA甲基化修饰对金钱鱼(Scatophagus argus)卵巢Cyp17a1表达的影响,进一步认识卵巢发育成熟相关基因表达的调控机制。【方法】分别取卵巢发育III、IV期的金钱鱼,以及投喂添加0(对照)、50、100μg/g雌二醇饲料30 d的2龄雌鱼,... 【目的】分析DNA甲基化修饰对金钱鱼(Scatophagus argus)卵巢Cyp17a1表达的影响,进一步认识卵巢发育成熟相关基因表达的调控机制。【方法】分别取卵巢发育III、IV期的金钱鱼,以及投喂添加0(对照)、50、100μg/g雌二醇饲料30 d的2龄雌鱼,用MethPrimer软件分析其Cyp17a1基因CpG二核苷酸位点分布特征,并预测CpG岛;采用亚硫酸氢盐测序法检测不同发育时期卵巢以及投喂雌二醇个体卵巢中的Cyp17a1的DNA甲基化修饰水平,并用实时荧光定量PCR分析Cyp17a1基因表达水平。【结果】金钱鱼Cyp17a1翻译起始位点2000 bp后无CpG岛,取第1外显子含有5个CpG位点(翻译起始位点后106、116、129、148和203 bp处)的区域用于DNA甲基化水平检测。金钱鱼III期卵巢Cyp17a1外显子1的DNA甲基化修饰水平显著高于IV期卵巢(P<0.05),与其mRNA表达水平呈负相关。116、129和203 bp处DNA甲基化存在发育时期差异,但106和148 bp处差异不显著(P>0.05)。投喂雌二醇后,金钱鱼卵巢Cyp17a1 mRNA表达水平和第1外显子CpG富集区域整体DNA甲基化修饰水平无显著变化(P>0.05),但雌激素处理雌鱼翻译起始位点后148、203 bp处甲基化水平明显上升(P<0.05)。【结论】金钱鱼卵巢Cyp17a1第一个外显子CpG富集区的整体甲基化水平与基因表达呈负相关,饲料E2可上调Cyp17a1第一个外显子148、205 bp处甲基化水平,表明甲基化修饰参与金钱鱼Cyp17a1的表达调控。 展开更多
关键词 金钱鱼 cyp17a1 基因表达 亚硫酸氢盐测序法 DNA甲基化
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CYP17A1基因突变致先天性肾上腺皮质增生症一例报道并文献复习
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作者 戴遥 薛丽萍 +3 位作者 章诗琪 许敏 章秋 胡红琳 《中国全科医学》 CAS 北大核心 2025年第6期771-776,共6页
17α-羟化酶缺乏症(17-OHD)是先天性肾上腺皮质增生症(CAH)中的一种罕见类型,约占CAH的1%,其患病率为1∶50000。本文报道了1例疑似17-OHD患者,通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变,结合临床表现、体格检查、肾上... 17α-羟化酶缺乏症(17-OHD)是先天性肾上腺皮质增生症(CAH)中的一种罕见类型,约占CAH的1%,其患病率为1∶50000。本文报道了1例疑似17-OHD患者,通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变,结合临床表现、体格检查、肾上腺和性腺功能检查等,最终将其明确诊断为CAH并给予规范治疗。故结合该病例,本文回顾总结了17-OHD的鉴别和诊断,以期提高临床对该病的认识,促进临床对17-OHD的规范诊治,为17-OHD的诊断和治疗提供更多的参考资料。 展开更多
关键词 肾上腺皮质疾病 先天性肾上腺皮质增生症 17Α-羟化酶缺陷症 基因诊断 cyp17A1基因
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CYP17A1和CYP19基因多态性与男性不育的关联
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作者 秦通 陈红霞 +2 位作者 成少琼 张伟群 杨文峰 《中文科技期刊数据库(引文版)医药卫生》 2024年第10期0076-0079,共4页
本研究旨在探讨男性不育症患者中CYP17A1和CYP19基因的多态性与男性不育症之间的关系。方法 采用酚-氯仿法提取患者全基因组DNA,并运用多重PCR技术对AZF区域微小缺失的患者进行基因敲除。通过SNaPshot方法检测CYP17A1基因的rs743572和rs... 本研究旨在探讨男性不育症患者中CYP17A1和CYP19基因的多态性与男性不育症之间的关系。方法 采用酚-氯仿法提取患者全基因组DNA,并运用多重PCR技术对AZF区域微小缺失的患者进行基因敲除。通过SNaPshot方法检测CYP17A1基因的rs743572和rs17115149位点,并运用SNaPshot分析其遗传变异。同时,利用PCR技术对CYP19基因进行扩增,并通过变性聚丙烯酰胺凝胶电泳法进行基因型分析。结果 通过对CYP17A1位点rs743572和rs17115149的单体型分析,发现A-G和G-G单体型在两组之间存在显著差异,携带A-G单体型男性不育症患者发病率显著升高(P=0.01,OR=1.44,CI=1.11-1.86),而携带G-G单体型则显著降低了男性不育症的发病率。在前期研究中,还发现(TAAA)n重复序列大于9的患者存在显著的遗传变异(P<0.05),而(TAAA)n重复序列小于9的患者,其不育易感性显著增加(P=0.00,OR=1.43,CI=1.10-1.85)。结论 男性不育症患者中,CYP17A1基因rs743572位点的A等位和AA基因型与男性不育症发病风险密切相关。这一研究结果为进一步了解和预防男性不育症提供了重要的遗传学信息。 展开更多
关键词 cyp17A1 CYP19 多态性 男性不育
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儿童期17α-羟化酶/17,20碳链裂解酶缺陷症的临床及遗传学特征
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作者 杨海花 卫海燕 +4 位作者 王诗琦 黄爱 李杨世玉 李园 张强 《中国临床医学》 2024年第2期233-240,共8页
目的探讨17α-羟化酶/17,20碳链裂解酶缺陷症(17α-hydroxylase/17,20-lyase deficiency,17OHD)在儿童期的临床及遗传学特征。方法回顾性分析2016年1月至2022年12月在郑州大学附属儿童医院确诊的4例17OHD患儿的临床表现、实验室及影像... 目的探讨17α-羟化酶/17,20碳链裂解酶缺陷症(17α-hydroxylase/17,20-lyase deficiency,17OHD)在儿童期的临床及遗传学特征。方法回顾性分析2016年1月至2022年12月在郑州大学附属儿童医院确诊的4例17OHD患儿的临床表现、实验室及影像学检查结果、基因突变特点,并结合文献进行汇总分析。结果4例患儿确诊时,年龄为11月21天至10岁6月;染色体核型均为46,XY;社会性别为男性1例,女性3例;主诉为阴茎短小1例、腹股沟肿块1例、高血压2级2例;彩超检查分别在阴囊、腹股沟、腹股沟内环口发现睾丸3例。4例患儿8点皮质醇、睾酮、雄烯二酮水平均降低,促肾上腺皮质激素、孕酮、促黄体生成素、卵泡刺激素水平均升高,17羟孕酮均正常。3例患儿血钾轻度减低(3.44~3.48 mmol/L)。CYP17A1纯合突变1例,复合杂合突变3例,其中c.563 A>G和c.436+1G>T为未报道过的新突变位点,3例均存在c.985_987delinsAA变异;4例均接受口服氢化可的松治疗。结论外生殖器异常、腹股沟/阴唇包块及高血压是46,XY的17OHD儿童期的主要表现,早期规范治疗可减少并发症,CYP17A1 c.985_987delinsAA变异可能为我国17OHD患儿的热点变异。 展开更多
关键词 cyp17A1 17α-羟化酶/17 20碳链裂解酶缺陷症 性发育异常 高血压
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血清BGP、miR-17-92、sST2与CHD患者PCI术后预后的关系
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作者 万又平 张国平 +2 位作者 李叔宝 郭伟崇 马金霞 《海南医学》 CAS 2024年第19期2817-2821,共5页
目的探讨骨钙素(BGP)、微小RNA-17-92a(miR-17-92)可溶性生长刺激表达基因2蛋白(sST2)与冠心病(CHD)患者经皮冠状动脉介入(PCI)术后预后的关系。方法选取2020年6月至2022年6月南阳市第一人民医院收治并行PCI术的168例CHD患者作为研究组... 目的探讨骨钙素(BGP)、微小RNA-17-92a(miR-17-92)可溶性生长刺激表达基因2蛋白(sST2)与冠心病(CHD)患者经皮冠状动脉介入(PCI)术后预后的关系。方法选取2020年6月至2022年6月南阳市第一人民医院收治并行PCI术的168例CHD患者作为研究组,另选取同期53例未行PCI的CHD患者作为对照组。比较两组患者的血清BGP、miR-17-92、sST2水平,研究组患者随访12个月,失访6例,依据预后情况分为预后不良组126例和预后良好组36例,采用多因素Logistic回归分析影响CHD患者PCI术后预后的危险因素;绘制受试者工作特征(ROC)曲线分析血清BGP、miR-17-92、s ST2对预后不良的预测效能。结果两组患者的血清BGP比较差异无统计学意义(P>0.05),但研究组患者的血清miR-17-92、sST2分别为1.55±0.29、(53.48±10.84)ng/mL,明显高于对照组的1.41±0.30、(20.64±5.97)ng/mL,差异均有统计学意义(P<0.05);预后不良组患者的miR-17-92、s ST2分别为1.59±0.29、(58.33±8.43)ng/mL,明显高于预后良好组的1.45±0.28、(52.15±6.86)ng/mL,而血清BGP水平为(23.06±3.84)ng/mL,明显低于预后良好组的(27.19±4.31)ng/mL,差异均有统计学意义(P<0.05);多因素Logistic回归分析结果显示,miR-17-92、sST2是CHD患者PCI术后预后的独立危险因素,而血清BGP是保护因素(P<0.05);ROC曲线分析结果显示,血清BGP、miR-17-92、s ST2单独及联合检测预测CHD患者PCI术后预后的曲线下面积(AUC)分别为0.783、0.628、0.723、0.856,联合预测的AUC明显高于单独预测(Z=2.897、4.627、1.984,P<0.05)。结论血清miR-17-92、sST2均是CHD患者PCI术后预后的危险因素,BGP是保护因素,监测其变化对CHD患者PCI术后预后有一定预测价值。 展开更多
关键词 冠心病 经皮冠状动脉介入术 微小RNA-17-92 骨钙素 可溶性生长刺激表达基因2蛋白 预后
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苦参碱调节RhoA-ROCK信号通路对冠心病模型大鼠Th17/Treg细胞平衡的影响 被引量:1
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作者 哈斯高娃 乌吉斯古楞 《中药新药与临床药理》 CAS CSCD 北大核心 2024年第3期349-357,共9页
目的探讨苦参碱(Matrine)对冠心病(coronary heart disease,CHD)大鼠辅助T细胞17(helper T cell 17,Th17)/调节性T细胞(regulatory T cells,Treg)细胞平衡及Ras同源基因家族成员A(RhoA)-Rho相关的卷曲螺旋激酶(ROCK)信号通路的影响。方... 目的探讨苦参碱(Matrine)对冠心病(coronary heart disease,CHD)大鼠辅助T细胞17(helper T cell 17,Th17)/调节性T细胞(regulatory T cells,Treg)细胞平衡及Ras同源基因家族成员A(RhoA)-Rho相关的卷曲螺旋激酶(ROCK)信号通路的影响。方法建立冠心病模型,将实验大鼠分为对照组、模型组、苦参碱低剂量(50 mg·kg^(-1))组、苦参碱高剂量(200 mg·kg^(-1))组及苦参碱高剂量(200 mg·kg^(-1))+LPA组(10 mg·kg^(-1))。超声心动图进行大鼠心功能检测;酶联免疫吸附试验(enzyme linked immunosorbent assay,ELISA)法进行白细胞介素17(IL-17)、转化生长因子β(TGF-β)水平检测;流式细胞术检测Th17、Treg数量及Th17/Treg比值;免疫组化进行内皮型一氧化氮合酶(eNOS)、内皮素1(ET-1)蛋白表达水平检测;Masson染色进行大鼠心肌组织的病理形态变化观察;TTC染色检测各组大鼠心肌梗死情况;TUNEL染色进行心肌组织中细胞凋亡情况检测;试剂盒检测RhoA活性;Western Blot法进行半胱氨酸天冬氨酸蛋白酶3(Caspase-3)、B细胞淋巴瘤因子2(Bcl-2)、Bcl-2相关X蛋白(Bax)、RhoA、ROCK1、ROCK2蛋白表达水平检测。结果与对照组比较,模型组心肌组织有大量蓝色胶原纤维沉积,左室舒张末期容积(left ventricular end-diastolic volume,LVEDV)、左室收缩末期容积(left ventricular end-systolic volume,LVESV)、IL-17、Th17、Th17/Treg、ET-1、心肌梗死面积、细胞凋亡率、TUNEL阳性率、Bax、Caspase-3、RhoA活性、RhoA、ROCK1、ROCK2表达水平明显升高,左室射血分数(left ventricular ejection fraction,LVEF)、左室缩短分数(left ventricular shortening fraction,LVFS)、TGF-β、Treg、eNOS、Bcl-2表达水平明显降低(P<0.05)。与模型组比较,Matrine-L组、苦参碱高剂量组心肌组织蓝色胶原纤维逐渐减少,LVEDV、LVESV、IL-17、Th17、Th17/Treg、ET-1、心肌梗死面积、细胞凋亡率、TUNEL阳性率、Bax、Caspase-3、RhoA活性、RhoA、ROCK1、ROCK2表达水平依次明显降低,LVEF、LVFS、TGF-β、Treg、eNOS、Bcl-2表达水平依次明显升高(P<0.05)。与苦参碱高剂量组比较,苦参碱高剂量+LPA组心肌组织蓝色胶原纤维增多,LVEDV、LVESV、IL-17、Th17、Th17/Treg、ET-1、心肌梗死面积、细胞凋亡率、TUNEL阳性率、Bax、Caspase-3、RhoA活性、RhoA、ROCK1、ROCK2表达水平明显升高,LVEF、LVFS、TGF-β、Treg、eNOS、Bcl-2表达水平明显降低(P<0.05)。结论苦参碱通过抑制RhoAROCK信号通路调节Th17/Treg细胞平衡,改善冠心病大鼠心肌损伤。 展开更多
关键词 苦参碱 冠心病 Ras同源基因家族成员A-Rho相关的卷曲螺旋激酶信号通路(RhoA-ROCK) 辅助T细胞17/调节性T细胞(Th17/Treg) 心肌损伤 大鼠
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程序化设计的简并引物克隆半滑舌鳎CYP17基因 被引量:21
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作者 陈彩芳 温海深 +1 位作者 何峰 董双林 《中国海洋大学学报(自然科学版)》 CAS CSCD 北大核心 2009年第6期1213-1218,共6页
采用1种新的简并引物设计方法——CODEHOP法来克隆半滑舌鳎CYP17基因。该法结合NCBI、Blastp、BlockMaker、CODEHOP等生物信息学资源和DNAMAN、Oligo6.0等生物软件,程序性设计半滑舌鳎CYP17基因的CODEHOP引物,从半滑舌鳎卵巢组织中成功... 采用1种新的简并引物设计方法——CODEHOP法来克隆半滑舌鳎CYP17基因。该法结合NCBI、Blastp、BlockMaker、CODEHOP等生物信息学资源和DNAMAN、Oligo6.0等生物软件,程序性设计半滑舌鳎CYP17基因的CODEHOP引物,从半滑舌鳎卵巢组织中成功克隆了CYP17基因,该基因片段与其它物种的CYP17家族具有较高的同源性,经鉴定,该基因属于整个脊椎动物的CYP17基因群,尤其是鱼类亚群。实验结果表明,程序性设计的简并引物较传统简并引物特异性更高,假阳性率少,更有利于实验成功。 展开更多
关键词 半滑舌鳎 简并引物 cyp17
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17α-羟化酶缺乏症3家系临床分析
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作者 马秀琦 唐怡珺 +6 位作者 陈瑶 刘倩 张小芳 陈林 张怡 汪希珂 王秀敏 《临床儿科杂志》 CAS CSCD 北大核心 2024年第5期450-455,共6页
目的探讨并总结17α-羟化酶缺乏症的诊断及治疗。方法回顾性分析2015年11月至2023年2月儿童内分泌遗传代谢科收治的来自3个家系共5例17α-羟化酶缺乏症(17OHD)病例的临床资料,并复习相关文献。结果5例患儿均存在高血压、低血钾及性激素... 目的探讨并总结17α-羟化酶缺乏症的诊断及治疗。方法回顾性分析2015年11月至2023年2月儿童内分泌遗传代谢科收治的来自3个家系共5例17α-羟化酶缺乏症(17OHD)病例的临床资料,并复习相关文献。结果5例患儿均存在高血压、低血钾及性激素水平低下,4例无第二性征发育,2例46,XY患儿行性腺活检+双侧睾丸切除术,术后性腺病理结果为发育不良的睾丸。基因分析结果提示3例为CPY17A1基因c.985_987delinsAA纯合突变,另2例为CPY17A1基因c.785T>G与c.1193C>T复合杂合突变。5例患儿经糖皮质激素治疗,低血钾和高血压均得到控制。结论早期识别与诊断17α-羟化酶缺乏症,及时予糖皮质激素替代治疗,可获得满意的疗效,提高患儿生活质量。基因测序有助于明确该罕见病的分子学诊断。 展开更多
关键词 17Α-羟化酶缺乏症 cyp17A1 高血压 低钾血症
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藏族CYP17与CYP19基因多态性与身高的相关关系 被引量:5
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作者 邢瑞仙 任甫 +6 位作者 李隆广 刘海东 李革 方伯言 席焕久 温有锋 黄克强 《解剖学杂志》 CAS CSCD 北大核心 2010年第3期391-393,共3页
目的:探讨西藏藏族人群CYP17与CYP19基因多态性与人体身高发育的关系。方法:收集长期居住西藏且体检健康的藏族人血液标本200例(男108例,女92例),并同时测量其身高,提取DNA,设计引物,通过RFLP-PCR法对CYP17基因多态性进行检测... 目的:探讨西藏藏族人群CYP17与CYP19基因多态性与人体身高发育的关系。方法:收集长期居住西藏且体检健康的藏族人血液标本200例(男108例,女92例),并同时测量其身高,提取DNA,设计引物,通过RFLP-PCR法对CYP17基因多态性进行检测;对CYP19基因经PCR扩增,电泳并回收后进行直接测序。结果:CYP17基因MspAII酶切位点基因多态性与藏族男性身高发育有关;与女性身高发育无明显相关性。CYPl9基因多态性与男、女身高均无相关。结论:CYP17基因可能是影响藏族男性身高个体差异的基因之一,而CYP19基因对藏族人群身高影响不明显。 展开更多
关键词 cyp17 CYP19 基因多态性 身高 藏族
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