Journal of Human Genetics and Genomics最新文献

{"title":"Evaluation of Human Mesenchymal Stem Cells Differentiation to Neural Cells on Polycaprolactone Nanofiber Scaffolds","authors":"Seyedeh Sara Karimian, S. Kaviani, M. Soleimani","doi":"10.5812/jhgg.111835","DOIUrl":"https://doi.org/10.5812/jhgg.111835","url":null,"abstract":": Differentiation of human mesenchymal stem cells (hMSC) to neural cells on Nano-scaffolds is a promising method for the treatment of the damaged nervous system through bionanomaterial-cell transplantation. The hMSC’s multipotential features have been discovered in various tissue engineering researches. This investigation shows the in-vitro development and neural differentiation of hMSC in 3D and 2D environments. The 3D environment which used in this study is nanofibrous polycaprolactone (PCL). The differentiation potential of mesenchymal stem cells (MSCs) to neural cells, on the random polycaprolactone (PCL) nanofibrous scaffolds, and tissue plate was examined. Researches have proved that interaction of extracellular nanofibrous matrix with in-vivo cells, gives mechanical maintenance to the cells and plays a functional role in the control of cellular behaviour. Stem cells are developing as a fundamental tool in the evolution of tissue engineering and regenerative medication. PCL characterization was determined employing scanning electron microscopy (SEM). Agents like, retinoic acid, epidermal growth factor (EGF), fibroblast growth factor (FGF-2), and Ibmx, which they are neural inducing agents, added in DMDM/F12 to differentiate MSCs to neural cells. Reproduction of mesenchymal cells on PCL nanofibrous scaffolds and neural morphology revealed through a scanning electron microscope (SEM) and optical microscope outcomes. The differentiated mesenchymal cells on nanofibrous scaffolds express neural gene markers including; β- tubulin III and Map2 on the day of 14. Our investigation recommends the potential usage of differentiated neural cells from hMSCs on Nano-scaffolds toward the improvement of neural cells. This study conducted in 2011.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"82 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132146321","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}

{"title":"Preimplantation Genetic Diagnosis for Beta Thalassemia","authors":"Faravareh Khordadpoor Deilamani, M. Akbari","doi":"10.5812/jhgg.109503","DOIUrl":"https://doi.org/10.5812/jhgg.109503","url":null,"abstract":"Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesis and bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affected pregnancy to have a healthy child. Objectives: Here we report a PGD test for a couple who were heterozygous for CD36/37(-T) mutation in HBB gene and had terminated one affected pregnancy. Methods: Haplotype analysis of 6 flanking STR markers as well as variant detection by cycle sequencing were included in our PGD test in order to investigate the status of the embryos reliably. Results: Three out of five embryos were transferable. Conclusions: One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a healthy girl.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127432858","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}

{"title":"MicroRNAs as Regulatory Elements of Mammalian Spermatogenesis","authors":"F. Malekvandfard, L. Zare, S. M. Farsani, M. Motavaf","doi":"10.5812/jhgg.108116","DOIUrl":"https://doi.org/10.5812/jhgg.108116","url":null,"abstract":": In recent decades, infertility is becoming a public health issue. Male spermatogenesis failure has been considered a major contributory factor to infertility. Mammalian spermatogenesis is a well-defined process, requiring highly regulation processes in both transcriptional and the posttranscriptional levels. Discovery of microRNAs (miRNAs or miR) as essential class of gene expression regulators has provided new insights into a multitude of biological processes including spermatogenesis. In current review study, we first provide a short overview of spermatogenesis process, and then focus on recent studies that have elucidated the essential role of miRNAs in different steps of sperm production.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130161392","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}

{"title":"A Splicing Variant in OCRL Gene Might Explain the Second Case of Lowe Syndrome in Iran","authors":"M. Houshmand, G. Babamohammadi, H. Moazzeni, Ahmad Reza Salehi Chaleshtori, M. Akbari","doi":"10.5812/jhgg.110619","DOIUrl":"https://doi.org/10.5812/jhgg.110619","url":null,"abstract":": Lowe syndrome is a condition that primarily affects eyes, brain, and kidneys. This disorder follows X-linked recessive mode of inheritance and it occurs in males mainly. Mutations in OCRL (located at Xq25) gene can cause accumulation of phosphatidylinositol bisphosphate and disturbed actin cytoskeleton remodeling. There are 268 mutations in OCRL gene causing Lowe syndrome or Dent disease 2 in HGMD database, however 10 - 20% of Lowe syndrome suspects remain undiagnosed at molecular level. Here we present a male case of Lowe syndrome with characteristic features. Comprehensive clinical examination and genetic counseling were performed. Sanger sequencing was employed to investigate the possible OCRL mutations and we identified a donor splice site variant (NM-000276: c.2469 + 1G > A) in hemizygous state. This is a pathogenic variant according to the ACMG standards and guidelines and might explain the clinical features of the patient. This result is in accordance with the clinical diagnosis of Lowe syndrome and it is absent from ExAC, 1000 G, Iranome, GME, gnomAD Genome databases of healthy controls. In-silico analysis of this splicing variant revealed that the position is highly conserved between species. Splicing prediction tools predicted some changes in splicing pattern of the OCRL transcript, elimination of some protein features, and malfunctioning the OCRL protein as a consequence of this variant. Accordingly, we proposed the c.2469 + 1G > A variant might explain the clinical features in studied patient and be employed for prenatal diagnosis of Lowe syndrome in the family.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116485660","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}

{"title":"First Report of Preimplantation Genetic Diagnosis for Steroid-Resistant Nephrotic Syndrome","authors":"Faravareh Khordadpoor Deilamani, M. Akbari","doi":"10.5812/JHGG.109109","DOIUrl":"https://doi.org/10.5812/JHGG.109109","url":null,"abstract":"Background: Steroid-resistant nephrotic syndrome is a genetic disease with autosomal recessive inheritance pattern and symptoms such as proteinuria and hypoalbuminemia and rapid progress of kidney disease. Preimplantation genetic diagnosis is an option for couples who are at risk of affected pregnancy to have a healthy child. Objectives: This study aimed to develop a new PGD test for a couple who are heterozygous for a mutation in NPHS2 gene and have a son affected to steroid-resistant nephrotic syndrome. Methods: Variant detection by cycle sequencing and Multiplex fluorescent PCR for identification of flanking STR markers were used to investigate the status of the embryos. Results: Three out of six embryos were transferable from which one was transferred and resulted in the birth of a healthy boy. Conclusions: We recommend increasing the number of the STR markers to two at the downstream of the NPHS2 gene especially in cases that direct mutation analysis such as cycle sequencing is not applied.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"81 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130833655","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}

{"title":"Evaluation of Expression Levels of Linc-ROR and HULC Genes in Breast Cancer Cells (MCF7) Following Treatment with Nanocurcumin","authors":"Mahboobe Seyed Hosseyni, Amirali Gholamin, F. Roohollah, M. Sadeghizadeh","doi":"10.5812/jhgg.100080","DOIUrl":"https://doi.org/10.5812/jhgg.100080","url":null,"abstract":"Background: Breast cancer is one of the most common types of cancers and the leading cause of death, especially in women throughout the world. Various genetics and environmental factors have been identified as a risk factor for development of breast cancer. Long non-coding RNAs (lncRNAs) have gained significant attention in recent years as new and crucial players in cancer development. Curcumin is a plant compound that has been shown to inhibit various aspects of cancer including apoptosis, inhibition of cell proliferation, invasion and angiogenesis. Objectives: Elevated expression level of two lncRNAs, HULC and Linc-ROR, has been reported as contributing factor to the development of breast cancer. Therefore, we aimed to investigate the effect of nanocurcumin on expression levels of these genes. Besides, apoptotic effect of nanocurcumin on MCF7 cells was investigated. Methods: MCF7 cells were exposed to various concentrations of nanocurcumin and their metabolic activity was measured by MTT assay. The level of HULC and Linc-ROR genes was evaluated by real-time PCR. Apoptosis was also determined by Annexin test. Results: Twenty micromollar (µm) concentrations of nanocurcumin significantly decreased the expression of HULC and Linc-ROR genes (P < 0.05). These concentrations also led to significantly higher apoptosis rate in MCF7 cells (97%) compared to cell treated with curcumin. Conclusions: Our findings suggested that nanocurcumin exhibits apoptotic effects on breast cancer MCF7 cells by reducing the expression level of two proto-oncogene lncRNAs, HULC and Linc-ROR, which are both involved in downregulation of p53.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122319183","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}

{"title":"A Review of Artificial Genetic Constructs and Their Applications as Positive Controls","authors":"Mohammad Ali Yaghobi Moghaddam, M. J. D. Esmatabadi","doi":"10.5812/jhgg.jhgg-99853","DOIUrl":"https://doi.org/10.5812/jhgg.jhgg-99853","url":null,"abstract":"Advances in nucleic acid based molecular diagnosis techniques, provided the basis for efficient, accurate and rapid detection of bi-ological/pathological agents. However, these techniques suffer from major limitations including lack of the genomic sequence of high-riskpathogenstocalibratetechniquesaspositivecontrols,falsepositiveresultsandrestrictionsonaccesstoexistingcommer-cial tests. However with the advent of synthetic biology, it is possible to construct appropriate positive controls. Artificial genetic constructsarethesyntheticconstructsthatcontaingeneticmaterialsfromhighlydangerousbacteriaorviruses,whichcanbeused as positive controls in molecular techniques such as PCR. In this review, we introduce positive controls and simulator positive controls firstly and discuss about artificial genetic constructs, procedure of design and synthesis secondly. Finally, we discussed about single and chimeric artificial genetic constructs as two main categories of these positive control. introduce positive controls and simulator positive controls; then, we discuss about artificial genetic constructs as well as approaches for their design and synthesis of them. Finally, we provide an overview of two main categories of the simulator pos-itives, including single and chimeric synthetic artificial constructs.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"128 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127565957","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}

{"title":"Therapeutic Stem Cells and Their Utilization in Multiple Sclerosis Clinical Trials: A Mini Review","authors":"S. Esmaeilnejad, S. Dehghan, M. Javan","doi":"10.5812/JHGG.88276","DOIUrl":"https://doi.org/10.5812/JHGG.88276","url":null,"abstract":": In the last two decades, stem cell therapy has been developed rapidly. Stem cells have now emerged as a new treatment for many major disorders including neurodegenerative diseases such multiple sclerosis (MS). Recently, the attention of researchers working on MS have been attracted to cell therapy using therapeutic stem cells (TSCs). In this brief narrative review we explore the application of TSCs in last 5 years registered clinical trials. At the end, we will discuss the challenges and hopes ahead of therapeutic stem cells in treating MS patients.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123954282","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}

{"title":"Allele Frequency of 15 Autosomal Short Tandem Repeat Loci in Iranian Population with Comparison to Some Other Population","authors":"M. K. Avati, M. Akbari","doi":"10.5812/jhgg.87127","DOIUrl":"https://doi.org/10.5812/jhgg.87127","url":null,"abstract":"Background: Shorttandemrepeat(STR)markersareextensivelybeingusedforhumanidentificationaswellaspaternityandforen-sic analysis of biological evidence. Objectives: The aim of this study was to investigate the allelic frequencies and several forensic and paternity parameters of 15 autosomal short tandem repeat (STR) loci D3S1358, D16S5391, D7S820, D8S1179, D21S11, D18S51, D5S818, D13S317, FGA, THO1, TPOX, CSF1PO, vWA , D2S1338, and D19S433 in the Iranian population. Methods: Estimation of allelic frequencies and several forensic and paternity parameters of 15 STR loci were performed with the AmpFLSTR Identifilerr kit (Applied Biosystems) for 274 unrelated individuals living in Iran. Results: No deviation from Hardy-Weinberg equilibrium was found in any loci studied in this population. Among the 15 STR loci analyzed in the Iranian sample, the most discriminating loci were D21S11, D2S1338, D19S433, D18S51 and FGA with the highest power of discrimination. Theallelicdistributionalsowascomparedto13otherpopulationsincluding3IranianpopulationlivinginSyria, Dubai, the USA and in Fars province and 8 population from published studies of Azerbaijan, Bolu in Turkey, Morocco, Syria, Iraq, Saudi Arabia, Turkey, East Anatolia, and Pakistan. Conclusions: It was concluded that the population of present study had the least similarity with Azerbyjani (11 loci) and most similarity with the Iranian population in USA (15 loci).","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"118 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123236889","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}

{"title":"The Association of Genetic Factors to Multiple Sclerosis Susceptibility","authors":"M. Seyedsadr, S. Dashti","doi":"10.5812/JHGG.87043","DOIUrl":"https://doi.org/10.5812/JHGG.87043","url":null,"abstract":"Dear Editor, Multiple sclerosis (MS) is an autoimmune and neurodegenerative disease of central nervous system (CNS) which is affecting more than 2 million individuals in the world. During the acute phase of the disease, neuroinflammation, the activation and invasion of immune cells to CNS and demyelination are prominent. However, in the chronic and progressive phase of the disease, the immunological aspects decline and demyelination and axonal degeneration leads to permanent disability of patients. Since introduced at 1868, the etiology of MS remains unclear. Two general hypotheses try to explain the etiology: outside-in and inside-out. The former which is more accepted, indicated that the disease starts with a malfunction in specific types of immune cells (outside of CNS) which can be explained by genetic factors. In the latter hypothesis, a signal from CNS -like exposure to myelin antigens or similar antigens from viruses/bacteriaelicit the harsh immune response. There are some evidences for each one but at present the most accepted opinion is to consider MS a heterogeneous disease in which genetic predisposition and many environmental factors are evaluated in the disease onset (1, 2). There are some strong evidences in favor of the influence of genetic factors in disease development. In monozygotic tweens, if one of them develop the disease, there is a risk of 20% 30% for the other one to be affected. The probability decreases by decreased degree of genetic sharing. For example, for dizygotic tweens the probability drops to 5% and it will be even less for half siblings (3, 4). Furthermore, the risk of MS in families with both affected parents is significantly higher than families with only one affected parent (5). Interestingly, the familial heritability of MS, not only determine the possibility of its incidence, but also the time course and the severity of the disease (6). In spite of this familial risk, there is no pattern of inheritance like Mendelian traits. Modern technologies like microarray open a pipeline for searching the genes which may have a role in MS susceptibility. Until now, near 200 loci are introduced that may contribute to MS susceptibility. However, no single gene is fully responsible for the disease and a MS-prone genotype may elicits from multiple independent DNA variants. Interestingly, near 90% of the introduced loci are located in noncoding part of the DNA. Logically, no protein is coded in the noncoding sequences of DNA, though they may play an important role in gene regulation. Many of the susceptibility genes, found to be associated to other autoimmune diseases which favors the outside-in hypothesize (7). As first described at 1972, there is a strong association with the loci in HLA/MHC region of chromosome 6 and MS susceptibility. HLA is a complex array of genes which in human code the MHC (major histocompatibility complex) peptides. These peptides are responsible for antigen presenting to T cells which can turn on","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126401086","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}