International Journal of Human Genetics最新文献

{"title":"Association of MTHFR C677T with Idiopathic Recurrent Pregnancy Loss in Anhui Province of China","authors":"R. Khan","doi":"10.31901/24566330.2019/19.04.01","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.01","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45783156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Importance of Prenatal Diagnosis in Patients with History of Chromosomal Abnormalities","authors":"A. Tanaçan","doi":"10.31901/24566330.2019/19.03.723","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.03.723","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48538142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality Assessment of DNA Extraction Methods from Formalin-Fixed Paraffin-Embedded Tissues","authors":"M. Ferchichi","doi":"10.31901/24566330.2019/19.03.733","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.03.733","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42513870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sequencing Technologies: Introduction and Applications","authors":"V. K. Srivastava","doi":"10.31901/24566330.2019/19.1-3.732","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.1-3.732","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45333396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Roles of p53 Codon 72 and miR-502-binding Site in the 3’-UTR of SET8 SNPs in Urinary Bladder Cancer Predisposition in Turkish Population","authors":"Z. Yeğin","doi":"10.31901/24566330.2019/19.03.735","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.03.735","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":"1 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41619668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of the Status of Knowledge on the Genetic Susceptibility of Indian Women for Polycystic Ovary Syndrome","authors":"B. M. Reddy","doi":"10.31901/24566330.2019/19.02.724","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.02.724","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49187440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Novel Mutation delC336 and insC376 in Exon 4 of LDLR Gene in Vietnamese Patients with High Blood Cholesterol","authors":"T. Le","doi":"10.31901/24566330.2019/19.02.726","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.02.726","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43916003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duplication of Isoderivative Ph Chromosome with Tp53 Deletion in a Case of Imatinib Resistant CML","authors":"D. Shetty","doi":"10.31901/24566330.2019/19.02.720","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.02.720","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45269664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In-Silico Target Prediction for Hsa-Mir-27a and Identification of Genes Involved In Breast Cancer","authors":"A. Shah","doi":"10.31901/24566330.2019/19.01.683","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.01.683","url":null,"abstract":"MicroRNAs (miRNAs) are key gene regulators in all living organisms. They play an important role in various diseases including breast cancer (BC). Mutations within MIR27a gene have been linked with various types of cancers including breast cancer. Several tools are being used to identify potential targets for crucial miRNA genes. In the present study, online target prediction tools were used to investigate target genes that may be regulated by the mature form of MIR27a (hsa-mir-27a-3p and has-mir-27a-5p). A total of 52 target genes were found for hsa-mir-27a while for hsa-mir-27a-5p determined 45 targets. These target genes were further explored for their potential role in BC. It was found that the target genes are involved in vital biological processes in cancer progression and development. In conclusion, MIR27a may regulate several genes that are vital for BC development and progression. MIR27a may act as a promising new biomarker for anti-breast cancer therapy. *Address for correspondence: Aftab Ali Shah Department of Biotechnology, University of Malakand, Chakdara, Pakistan E-mail: aftabuom@gmail.com INTRODUCTION MicroRNAs (miRNAs) are small, highly conserved noncoding short (19-24 nt) RNA molecules that control gene expression post-transcriptionally, either by degradation of target mRNAs or by inhibition of protein translation. It is already known that miRNAs have a significant role in crucial biological pathways (Oliveto et al. 2017) More than fifty percent of all genes in the human genome are known to be regulated by miRNAs (Keller et al. 2014). Recently it is shown that abnormal expression of miRNAs is related to a broad range of human diseases (Chen et al. 2018; Li and Kowdley 2012). A large number of miRNAs have been discovered by cloning and size-fractionated RNA techniques. The researchers’ previous studies have shown altered expression profile of selected miRNA in caloric metabolism and gastric cancer by using whole genome miRNA profiling studies using blood samples from human and related knockout mouse models (Shah et al. 2013; Shah et al. 2012; Shah et al. 2011). MIR27a is thought to be an oncomir promoting tumor growth and metastasis. It has been reported to be a marker for breast cancer progression and patient survival (Zhao et al. 2016). MiR-27a is involved in the modulation of growth, angiogenesis and metastasis of BC and gastric cancer cells (Ding et al. 2017; Zhou et al. 2016a; Tang et al. 2014). Targets genes of the majority of the miRNA are not known, but the predicted limit is from a single to hundreds of genes for a certain miRN As, which is based on target estimation by applying an array of bioinformatics methods. The biogenesis of miRNAs is a highly regulated process, and alteration in their regulation is linked with many diseases in human (Chen et al. 2018; Ding et al. 2017; Ha and Kim 2014). Expression of miRNAs is tissue-specific and also influenced by different developmental stages. Hence, miRNAs exhibiting abnormal ","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48488943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Pregnancies in 25 Families with Balanced/Unbalanced Chromosomal Translocations","authors":"E. Fadıloğlu","doi":"10.31901/24566330.2019/19.01.713","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.01.713","url":null,"abstract":"The researchers evaluated pregnancies in families with balanced/unbalanced translocations. This clinical cohort consisted of 25 pregnancies with balanced/unbalanced chromosomal translocations in family member(s) (maternal, paternal, fetal, abortion material, and/or previous fetus(es)) who underwent prenatal diagnosis. Translocations were observed in 18 cases (14 balanced and 4 unbalanced translocations). The researchers found 2 and 12 cases among the chromosomal translocations were paternal and maternal in origin, respectively. The researchers demonstrated that parent karyotypes were normal in 4 cases, while only maternal karyotypes were normal in 3 cases with unknown paternal karyotypes. Five of the prenatally diagnosed chromosomal abnormalities were Robertsonian and 13 were reciprocal translocations, Among the Robertsonian translocations, 2 were unbalanced. Early fetal loss or recurrent miscarriages were observed in previous history of 10(40%) and 6(24%) respectively. Prenatal diagnosis is critical in pregnancies with balanced/unbalanced chromosomal translocations in a member(s) of the family or those with poor gestational histories. Address for correspondence: Erdem Fadiloglu Hacettepe University, Division of Perinatalogy, Department of Women’s Health, Ankara, Turkey Telephone: +90 5464750175 E-mail: erdemfadiloglu@hacettepe.edu.tr INTRODUCTION Balanced and unbalanced chromosomal translocations are among the main concerns of physicians within the framework of prenatal diagnosis programs (Pourjafari et al. 2012; Page and Silver 2016). Balanced translocations are structural rearrangements of chromosomes without the gain or loss of genetic material and comprise most chromosomal translocations (Etem et al. 2010). Balanced translocation was reported to occur in 0.08 0.3 percent of the general population (Morin et al. 2017; Kochhar and Ghosh 2013; Joó et al. 2012). In contrast, unbalanced translocations occur with gain or loss of genetic material and are less common than balanced translocations (Joó et al. 2012). It was previously reported that the incidence of translocations in families with recurrent miscarriages is 2.69 percent (Li et al. 2017). Reciprocal translocation is an exchange of chromosomal segments between 2 non-homologous chromosomes (without a change in the number of total chromosomes), while Robertsonian translocation is an exchange between the long arms of two acrocentric chromosomes (chromosomes 13, 14, 15, 21, and 22), which leads to a decrease in the total chromosomal number from 46 to 45. Reciprocal translocations are observed more frequently with an incidence rate of 1/500–625 compared to Robertsonian translocations with an incidence rate of 1/900 (Joó et al. 2012). Carriers of balanced chromosomal translocations may be normal or have minimal phenotypic variations without clinical signs and symptoms (Baptista et al. 2008). However, these carriers may suffer from infertility problems and repeated miscarriages or may have offspri","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":0.1,"publicationDate":"2019-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48621304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}