Journal of Human Genetics and Genomics最新文献_第2页

Review of Prenatal Aneuploidy Screening Uptake Rate and Trends in Iran, and Developed Countries 伊朗和发达国家产前非整倍体筛查的摄取率和趋势综述

Journal of Human Genetics and Genomics Pub Date : 2021-11-02 DOI: 10.5812/jhgg.119314

A. Najafi, S. Akrami

引用次数: 1

Debates on Down Syndrome Screening in Iran 关于伊朗唐氏综合征筛查的辩论

Journal of Human Genetics and Genomics Pub Date : 2021-11-02 DOI: 10.5812/jhgg.119316

A. Najafi, S. Akrami

引用次数: 0

In Memoriam Professor Dr. Javad Tavakkoly Bazzaz M.D., Ph.D. (1966 - 2020) 悼念 Javad Tavakkoly Bazzaz 医学博士、哲学博士、教授 (1966 - 2020)

Journal of Human Genetics and Genomics Pub Date : 2021-10-27 DOI: 10.5812/jhgg.120343

P. Izadi, M. Tabrizi

引用次数: 0

Assessment of the Relationship Between ERBB4 rs13393577 Polymorphism and Breast Cancer Susceptibility in Iranian Population 伊朗人群ERBB4 rs13393577多态性与乳腺癌易感性关系的研究

Journal of Human Genetics and Genomics Pub Date : 2021-10-16 DOI: 10.5812/jhgg.119566

Rozita Eetezadi, K. Amini, Golnaz Asaadi

{"title":"Assessment of the Relationship Between ERBB4 rs13393577 Polymorphism and Breast Cancer Susceptibility in Iranian Population","authors":"Rozita Eetezadi, K. Amini, Golnaz Asaadi","doi":"10.5812/jhgg.119566","DOIUrl":"https://doi.org/10.5812/jhgg.119566","url":null,"abstract":"Background: Studies have shown that the polymorphism of genes involved in breast cancer in combination with environmental factors has an important role in the progression of breast cancer. Objectives: In this study, the association between polymorphism of the ERBB4 gene with breast cancer was investigated. Methods: In the present study, 110 patients with breast cancer and 110 healthy individuals were selected as controls. DNA extraction was performed on patients’ samples. The tetra-ARMS-PCR method was used to study rs13393577 polymorphism. Finally, statistical analysis was performed using SPSS software using t-test. Results: The results of the study in the patients' group showed that the frequencies of TT, CT, and CC genotypes were 73, 15, and 1.8%, and allelic frequency in this group for T and C alleles were 95 and 5%, respectively. In addition, the results of the study in the control group showed that the frequencies of TT, CT, and CC genotypes were 86, 11, and 0.9%, respectively. The allelic frequencies in the control group for the T and C alleles were 97 and 3%, respectively. In addition, the risk ratio and allelic reliability were obtained for T allele was OR: 3.06: and CI = 0.31 – 29.94 and for C allele was OR: 0.32: and CI: 0.03 - 3.19, respectively. Finally, statistical analysis showed that no significant difference was observed between the two groups (P > 0.05). Conclusions: The results of the present study showed that rs13393577 polymorphism in the EGFR gene (ERBB4) is not a genetic predisposing factor for breast cancer.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116065885","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

Spectrum of Mutations of Familial Mediterranean Fever Gene by Whole Sequencing Method in Iranian Patients 伊朗患者家族性地中海热基因全测序突变谱分析

Journal of Human Genetics and Genomics Pub Date : 2021-10-16 DOI: 10.5812/jhgg.111252

Helal Nemat Farahzadi, M. Akbari, R. Shiari, Shohreh Zare Karizi, S. Farivar

{"title":"Spectrum of Mutations of Familial Mediterranean Fever Gene by Whole Sequencing Method in Iranian Patients","authors":"Helal Nemat Farahzadi, M. Akbari, R. Shiari, Shohreh Zare Karizi, S. Farivar","doi":"10.5812/jhgg.111252","DOIUrl":"https://doi.org/10.5812/jhgg.111252","url":null,"abstract":"Background: Familial Mediterranean fever (FMF) is the most common type of periodic fever syndrome. The disease is most prevalent in the western Mediterranean population, but today it is widespread in the world due to the large ethnic migrations of Turks, Jews, Arabs and Armenians. The MEFV gene is the only gene known to be associated with the disease. Objectives: The aim of this study was to characterize pathogenic mutations in patients with typical FMF symptoms by sequencing the entire MEFV gene. Methods: This is a descriptive-analytical study that was performed during ten years from 2009 to 2019. On 252 patients after clinical diagnosis based on existing criteria to determine mutations referred to Tehran Medical Genetics Laboratory and the whole sequencing method for MEFV gene was used to determine mutations. Results: Out of 252 patients, 143 (56.7%) had pathogenic variants, and 109 (43.3%) had no variants reported as pathogenic mutations. Variants were identified as fallow: (1) 8.7% as homozygous; (2) 22.2% as compound heterozygous; (3) 25.7% as heterozygous. The most common variants were M694V (c.2080A > G) and E148Q (c.442G > C). Conclusions: This study showed that the age of onset of the disease was in the first and second decades of life amongst our patients and the most common complaints of patients were periodic fever and abdominal pain. The most frequent allele was M694V (c.2080A > G) followed by E148Q (c.442G > C) allele.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124945506","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

Expression deregulation of SHANK3 gene in children with autism spectrum disorder and attention deficit and hyperactivity disorder SHANK3基因在自闭症谱系障碍和注意缺陷与多动障碍患儿中的表达异常

Journal of Human Genetics and Genomics Pub Date : 2021-05-01 DOI: 10.52547/jhgg.5.1.70

Hanieh Bai, S. Y. Seyedena, M. Karimipoor, M. Hashemi

引用次数: 0

Investigation Effect of miR-451 and miR-16 in α-Chain on Erythroid Lineage in Electromagnetic Field Residing in Radiated Human Fibroblasts α-链miR-451和miR-16对辐射人成纤维细胞中电磁场中红系谱系的影响

Journal of Human Genetics and Genomics Pub Date : 2021-05-01 DOI: 10.52547/jhgg.5.1.41

Nafiseh Karoubi, Gholamreza Khamisipour, N. Babaei, N. Obeidi, A. Doosti

引用次数: 0

A Comprehensive Review on Helicobacter pylori Infection and Gastric Cancer 幽门螺杆菌感染与胃癌研究综述

Journal of Human Genetics and Genomics Pub Date : 2021-05-01 DOI: 10.52547/jhgg.5.1.42

Farhad Kamandi, Mohammad reza Emadzadeh, Saeed Ghanbari hassan kiadeh, Aref Abbasian, Seyed Amir Hossein Mohammadzadeh Hosseini Moghri

引用次数: 0

Risk of Atrioventricular Septal Defects in Down syndrome: Association of MTHFR C677T and RFC1 A80G polymorphisms in Indian Bengali cohort 唐氏综合征房室间隔缺损的风险:印度孟加拉队列中MTHFR C677T和RFC1 A80G多态性的关联

Journal of Human Genetics and Genomics Pub Date : 2021-05-01 DOI: 10.52547/jhgg.5.1.69

Agnish Ganguly, Pinku Halder, Upamanyu Pal, S. Sarkar, S. Datta, Sananda Pati, Sujay Ghosh

引用次数: 1

Dendrosomal nano-curcumin reduces VEGF gene expression and with increasing cell apoptosis has an inhibitory effect on the Burkitt lymphoma cell line. 树状体纳米姜黄素降低VEGF基因表达，并增加细胞凋亡，对Burkitt淋巴瘤细胞系有抑制作用。

Journal of Human Genetics and Genomics Pub Date : 2021-05-01 DOI: 10.52547/jhgg.5.1.65

Mahboobeh Cheragh, M. Sadeghizadeh, M. Pouriayevali, M. Parsania

引用次数: 0