AIMS Genetics最新文献_第5页

Thymoquinone disrupts the microtubule dynamics in fission yeast Schizosaccharomyces pombe 百里醌破坏裂糖酵母的微管动力学

AIMS Genetics Pub Date : 2016-11-11 DOI: 10.3934/genet.2016.4.239

N. Masood, Saman Khan, S. Luqman, Shakil Ahmed

引用次数: 0

MiR-608 rs4919510 C > G polymorphism increased the risk of bladder cancer in an Iranian population MiR-608 rs4919510 C > G多态性增加了伊朗人群膀胱癌的风险

AIMS Genetics Pub Date : 2016-11-08 DOI: 10.3934/genet.2016.4.212

M. Hashemi, F. Bizhani, H. Danesh, B. Narouie, M. Sotoudeh, M. Radfar, M. Ramezani, G. Bahari, M. Taheri, S. Ghavami

{"title":"MiR-608 rs4919510 C > G polymorphism increased the risk of bladder cancer in an Iranian population","authors":"M. Hashemi, F. Bizhani, H. Danesh, B. Narouie, M. Sotoudeh, M. Radfar, M. Ramezani, G. Bahari, M. Taheri, S. Ghavami","doi":"10.3934/genet.2016.4.212","DOIUrl":"https://doi.org/10.3934/genet.2016.4.212","url":null,"abstract":"Abstract\u0000 MicroRNAs (miRNAs) participate in diverse biological pathways and may act as oncogenes or tumor suppressors. The single nucleotide polymorphisms (SNPs) in miRNAs potentially can alter miRNA-binding sites on target genes as well as affecting miRNAs expression. The present study aimed to evaluate the impact of miR-608 rs4919510 C > G variant on bladder cancer risk. This case-control study conducted on 233 bladder cancer patients and 252 healthy subjects. Genotyping of miR-608 rs4919510 was done using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Our findings showed that CG as well as CG + GG genotypes significantly increased the risk of bladder cancer (OR = 1.94, 95% CI = 1.28–2.94, p = 0.002, and OR = 1.90, 95% CI = 1.26–2.86, p = 0.002, respectively) compared to CC genotype. The G allele significantly increased the risk of bladder cancer compared to C allele (OR = 1.69, 95% CI = 1.17–2.45, p = 0.005). Our findings proposed that miR-608 polymorphism might be associated with increased risk of bladder cancer in a sample of Iranian population. Further large-scale studies with different ethnicities are needed to verify our findings.","PeriodicalId":43477,"journal":{"name":"AIMS Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70248659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

De novo cytogenetic alterations in spermatozoa of subfertile males might be due to genome instability associated with idiopathic male infertility: Experimental evidences and Review of the literature 不育男性精子的新生细胞遗传学改变可能是由于与特发性男性不育相关的基因组不稳定:实验证据和文献综述

AIMS Genetics Pub Date : 2016-11-07 DOI: 10.3934/genet.2016.4.219

H. Mozdarani, S. Mozdarani

{"title":"De novo cytogenetic alterations in spermatozoa of subfertile males might be due to genome instability associated with idiopathic male infertility: Experimental evidences and Review of the literature","authors":"H. Mozdarani, S. Mozdarani","doi":"10.3934/genet.2016.4.219","DOIUrl":"https://doi.org/10.3934/genet.2016.4.219","url":null,"abstract":"Abstract\u0000 Male infertility is caused by many factors including genetics. Although part of genetic damages are inherited and could be traced in blood leukocytes, but those de novo alterations induced in spermatogenesis are not part of diagnostic work up. De novo alterations might be the cause of many idiopathic conditions of male infertility. The aim of this study was to evaluate DNA damage, sex chromosomal aneuploidy and DAZ microdeletion in sperms of subfertile males in comparison with normal healthy individuals. Whole blood and semen samples were obtained from 75 subfertile and 45 normal men. Semen samples from karyotypically normal subfertile and normal individuals were used for DNA fragmentation, sex chromosome aneuploidy and DAZ microdeletion analysis. Sperm DNA damage was assessed by alkaline comet assay, chromosome aneuploidy and DAZ microdeletion was assessed using a combined primed in situ labeling and fluorescent in situ hybridization (PRINS-FISH) method. A significantly high percentage of DNA fragmentation was observed in subfertile patients compared to control. Similar observation was observed for sex chromosome aneuploidy and DAZ microdeletion (p < 0.01). A relatively small interindividual difference was seen in all three assays performed. However DAZ microdeletion was observed as mosaic form in Y bearing sperms. Results indicate that subfertile males experience higher genome instability in spermatogenesis expressed as DNA damage and consequently sperm chromosomal 220 AIMS Genetics Volume 3, Issue 4, 219-238. aneuploidy or microdeletions. Occurrence of de novo genetic alterations caused by environmental chemico-physical genotoxic agents during spermatogenesis might be one of the causes of idiopathic male infertility.","PeriodicalId":43477,"journal":{"name":"AIMS Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70248700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus FGFR2氨基酸残基Asn549的改变可导致伴有脑积水的Crouzon和Pfeiffer综合征

AIMS Genetics Pub Date : 2016-09-27 DOI: 10.3934/genet.2016.4.205

C. Apra, C. Collet, É. Arnaud, F. Rocco

引用次数: 0

Analysis of class 2 integrons as a marker for multidrug resistance among Gram negative bacilli 革兰氏阴性杆菌多药耐药标志物2类整合子分析

AIMS Genetics Pub Date : 2016-09-25 DOI: 10.3934/genet.2016.4.196

Cecilia Rodríguez, M. Cassini, G. Delgado, M. Ramírez, D. Centrón

{"title":"Analysis of class 2 integrons as a marker for multidrug resistance among Gram negative bacilli","authors":"Cecilia Rodríguez, M. Cassini, G. Delgado, M. Ramírez, D. Centrón","doi":"10.3934/genet.2016.4.196","DOIUrl":"https://doi.org/10.3934/genet.2016.4.196","url":null,"abstract":"Abstract Class 1 and 2 integrons are considered the paradigm of multidrug resistant (MDR) integrons. Although class 1 integrons have been found statistically associated to Enterobacteriaceae MDR isolates, this type of study has not been conducted for class 2 integrons. Escherichia coli and 3 species that were found that harbored more than 20% of class 2 integrons in clinical isolates, were selected to determine the role of intI2 as MDR marker. A total of 234 MDR/191 susceptible non-epidemiologically related isolates were analyzed. Seventy-four intI2 genes were found by PCR and sequencing. An intI2 relationship with MDR phenotypes in Acinetobacter baumannii and Enterobacter cloacae was found. No statistical association was identified with MDR E. coli and Helicobacter pylori isolates. In other words, the likelihood of finding intI2 is the same in susceptible and in MDR E. coli and H. pylori strains, suggesting a particular affinity between the mobile element Tn7 and some species. The use of intI2 as MDR marker was species-dependent, with fluctuating epidemiology at geographical and temporal gradients. The use of intI2 as MDR marker is advisable in A. baumannii, a species that can reach high frequencies of this genetic element.","PeriodicalId":43477,"journal":{"name":"AIMS Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70249097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vitamin D receptor gene polymorphisms in Sudanese children with type 1 diabetes 苏丹1型糖尿病儿童维生素D受体基因多态性

AIMS Genetics Pub Date : 2016-08-31 DOI: 10.3934/genet.2016.3.167

K. Khalid

{"title":"Vitamin D receptor gene polymorphisms in Sudanese children with type 1 diabetes","authors":"K. Khalid","doi":"10.3934/genet.2016.3.167","DOIUrl":"https://doi.org/10.3934/genet.2016.3.167","url":null,"abstract":"Abstract Type 1 diabetes mellitus (T1DM) is a T cell mediated autoimmune disease. Vitamin D was found to suppress the incidence of diabetes when bind to its receptor (VDR), probably by suppressing T cell activations. Thus the VDR gene polymorphism may have an impact on pathophysiology of this disease. Since there was no consistent association between VDR polymorphisms and the risk of T1DM, this study aimed to investigate a VDR gene polymorphism in Sudanese children with T1DM. We examined the VDR gene Bsm1 (rs1544410), Apa1 (rs7975232), and Taq1 (rs731236) single nucleotide polymorphisms in 174 children with T1DM, and 56 children as control, and the association of these polymorphisms with the diabetic control. Among study patients, the majority (85.63%) of diabetic patients reported metabolically poor controlled (HbA1c > 8%). As compared with the control, patients with T1DM presented more commonly with Bsm1 B allele (p = 0.001; OR 0.283; 95% CI 0.131–0.609) and Taq1 T allele (p = 0.05; OR 2.429; 95% CI 1.073–5.496). Apa1 A allele was less common in patients with T1DM without statistical difference (p = 0.862; OR 1.085; 95% CI 0.546–2.156). Our study suggests that, Bsm1 and Taq1 polymorphisms of the VDR gene associated with the prevalence of T1DM.","PeriodicalId":43477,"journal":{"name":"AIMS Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70249024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 18

Towards a better understanding of preimplantation genetic screening and cumulative reproductive outcome: transfer strategy, diagnostic accuracy and cost-effectiveness 更好地了解胚胎植入前遗传筛查和累积生殖结果:转移策略，诊断准确性和成本效益

AIMS Genetics Pub Date : 2016-08-23 DOI: 10.3934/genet.2016.3.177

P. Scriven

{"title":"Towards a better understanding of preimplantation genetic screening and cumulative reproductive outcome: transfer strategy, diagnostic accuracy and cost-effectiveness","authors":"P. Scriven","doi":"10.3934/genet.2016.3.177","DOIUrl":"https://doi.org/10.3934/genet.2016.3.177","url":null,"abstract":"Abstract A decision model was constructed to compare genetic testing and not testing, for the transfer of all suitable embryos, one at a time, from a cycle with up to ten embryos, until a first live birth was achieved or there were no more embryos available (a full cycle). Two strategies were investigated: (i) a fresh transfer with subsequent serial warmed cryopreserved embryo replacement, and (ii) freeze-all prior to serial embryo replacement. Sensitivity analyses were performed to assess the effect of embryo warming survival and diagnostic accuracy on cumulative rates. Cost-effectiveness was assessed using the incremental cost-effectiveness ratio for a live birth event, and a clinical miscarriage avoided. Reproductive outcome probabilities were obtained from published prospective non-selection studies, and costs from websites and publications. Given 100% embryo warming survival and no false abnormal genetic test results, the live birth rate for a full cycle was the same with and without testing for both transfer strategies. Compared to not testing, it was theoretically possible for testing to be favoured for live birth only for the fresh and frozen transfer strategy, where more than one embryo was available, and dependent on the efficiency of warming survival and the positive predictive value of the test; however, this was unlikely to be cost-effective from a society perspective without a substantial reduction in genetic testing costs. For both transfer strategies, when more than one embryo was available, testing was more likely to achieve a live birth event following the first attempt with fewer attempts required overall. Testing was likely to be effective to avoid a clinical miscarriage but also to be expensive from a society perspective compared to the cost of dilation and curettage.","PeriodicalId":43477,"journal":{"name":"AIMS Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70249084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

A history of you, me, and humanity: mitochondrial DNA in anthropological research 你，我和人类的历史:人类学研究中的线粒体DNA

AIMS Genetics Pub Date : 2016-07-11 DOI: 10.3934/genet.2016.2.146

Jada Benn Torres

{"title":"A history of you, me, and humanity: mitochondrial DNA in anthropological research","authors":"Jada Benn Torres","doi":"10.3934/genet.2016.2.146","DOIUrl":"https://doi.org/10.3934/genet.2016.2.146","url":null,"abstract":"Abstract Within genetic anthropology, mitochondrial DNA (mtDNA) has garnered a prominent if not enduring place within the anthropological toolkit. MtDNA has provided new and innovative perspectives on the emergence and dispersal of our species, interactions with extinct human species, and illuminated relationships between human groups. In this paper, I provide a brief overview of the major findings ascertained from mtDNA about human origins, human dispersal across the globe, interactions with other hominin species, and the more recent uses of mtDNA in direct to consumer ancestry tests. Relative to nuclear DNA, mtDNA is a small section of the genome and due to its inheritance pattern provides a limited resolution of population history and an individual's genetic ancestry. Consequently, some scholars dismiss mtDNA as insignificant due to the limited inferences that may be made using the locus. Regardless, mtDNA provides some useful insights to understanding how social, cultural, and environmental factors have shaped patterns of genetic variability. Furthermore, with regard to the experiences of historically marginalized groups, in particular those of African descent throughout the Americas, mtDNA has the potential to fill gaps in knowledge that would otherwise remain unknown. Within anthropological sciences, the value of this locus for understanding human experience is maximized when contextualized with complementary lines of evidence.","PeriodicalId":43477,"journal":{"name":"AIMS Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70248956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Uncovering the stem cell hierarchy by genetic lineage tracing in the mammary gland 通过乳腺遗传谱系追踪揭示干细胞的层次结构

AIMS Genetics Pub Date : 2016-07-07 DOI: 10.3934/genet.2016.2.130

Liliana Osório, F. Long, Zhongjun Zhou

{"title":"Uncovering the stem cell hierarchy by genetic lineage tracing in the mammary gland","authors":"Liliana Osório, F. Long, Zhongjun Zhou","doi":"10.3934/genet.2016.2.130","DOIUrl":"https://doi.org/10.3934/genet.2016.2.130","url":null,"abstract":"Abstract The mammary gland is the distinct feature that gives the name to the class of mammals and distinguishes them from other animals. Functionally, the mammary gland is a secretory organ which main role is to produce milk to nourish the offspring. Organogenesis of the mammary gland starts during embryogenesis but occurs mainly after birth at puberty under the influence of hormonal cues. Throughout the adult life as well as during pregnancy, the mammary gland shows a remarkable regenerative ability, thus constituting an excellent model for studying stem cell biology. Although the mammary gland consists of a relatively simple epithelial structure with a luminal and a basal cell layers, these are indeed composed by distinct subsets of mammary epithelial cells. Flow cytometry and transplantation assay have identified several subpopulations of stem and/or progenitor cells in the mammary gland. Yet, physiological and developmental relevant information can only be obtained when investigating the stem cell hierarchy in the intact mammary gland. Genetic lineage tracing studies have offered unprecedented levels of information regarding the organization of the stem cell compartment and possible role of resident stem and/or progenitor cells at different stages of the mammary gland organogenesis. These studies, although creating a passionate debate, highlight the existence of heterogeneous stem cell compartment, where bipotent as well as unipotent mammary stem cells seems to co-exist. Genetic lineage tracing experiments provide relevant information on stem cells that are key for understanding both normal development as well as associated pathologies in human. It holds the promise of providing new insights into the cell-of-origin and heterogeneity of breast tumorigenesis.","PeriodicalId":43477,"journal":{"name":"AIMS Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70248946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Craniosynostosis: current conceptions and misconceptions 颅缝闭锁:目前的观念和误解

AIMS Genetics Pub Date : 2016-04-12 DOI: 10.3934/genet.2016.1.99

C. S. Fonteles, R. Finnell, T. George, R. Harshbarger

引用次数: 7