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Генетика человека и эмбриология

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Объем 11, Проблема 1 (2021)

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FSHR Thr307Ala Polymorphism Associates with Ovarian Response to Exogenous FSH Stimulation, However, Asn680Ser Seems Controversial

Roghayeh Asl Monadi, Hourieh Khani , Parisa Mousapour, Masoud Maleki *

Objective: The success rate in assisted reproductive technologies is dependent upon the number of retrieved oocytes and available embryos to transfer. Administration of exogenous FSH is helpful reaching the optimum effectiveness; however, the ovarian responses to such stimulations are unpredictable among individuals. Two SNPs within FSH receptor gene can alter these responses and can be used for predicting the results. In the present study, rs6165 and rs6166 polymorphisms of FSHR gene were analyzed. Materials and Methods: In this case-control study 30 women with Poor Ovarian Response (POR), 55 women with Normal Ovarian Response (NOR) and 55 control women were analyzed. Target polymorphisms were detected using PCR-FRLP method. Bsu36I and BsrI restriction enzymes were used for detection of rs6165 and rs6166 SNPs, respectively. Results: The frequencies of A and G alleles for Thr307Ala (rs6165) polymorphism for control, POR, and NOR groups were 57.3%, 42.7%, 41.7%, 58.3%, 47.3%, and 52.8%, respectively. A and G allelic frequencies for Asn680Ser (rs6166) polymorphism in control, POR, and NOR groups were 63.6%, 36.4%, 53.3%, 46.7%, 51.8%, and 48.2%, respectively. Rs6165 SNP was more frequent among POR group comparing to control and NOR groups. Regarding rs61666 polymorphism, it was revealed that the differences of genotype frequencies between the analyzed groups were not statistically significant. Conclusion: Our results indicate the association of FSHR Thr307Ala polymorphism with the ovarian response to exogenous FSH stimulation; however, statistically significant differences between poor ovarian response infertile women and control group as well as good ovarian response group regarding the second polymorphism was not observed.

Обзорная статья

Dependence between Breast Cancer in Women and Body Mass Index. The Role of L-Carnitine in Prediction and Outcomes of the Disease

Hojouj Mohammad I. M., Chabanova K. N., I. N. Bondarenko, Viktor Zavizion and Hojouj Tamar*

The incidence of breast cancer in the world in general and in Ukraine in particular is growing. In 2017, in Ukraine the incidence reached 16 percent of female population. According to the Ministry of Health in Ukraine 26% of the female population for 2017 was overweight or obese. There is a strong biologic basis for an association of obesity with poor breast cancer outcomes. Obesity-a chronic metabolic character, which is the result of the interaction of the endogenous factors, environmental conditions and lifestyle. Endogenous factors could be considered a violation of the genetic and hormonal balance. The external conditions include irregular rhythm nutrition, use of substandard products. By disorders include sedentary lifestyle lifestyles. Obesity is the first risk factor for metabolic syndrome, diabetes type II, cardiovascular disease and some forms of cancer, including breast cancer. Since overweight is a risk factor for breast cancer, there is reason to believe that among patients with breast cancer the percentage of obese women is higher than in the population. The risk of breast cancer in postmenopausal women is more by 30% in premenopausal, women with obesity 50%. Furthermore it was proven that obesity is associated with poor prognosis in patients with breast cancer, regardless of menopausal status.

Обзорная статья

Armed Epstein Barr Virus Gene Therapy of Human Medulloblastoma Clinical Trial Phase-II (100% Powerful and Fully Treated Vaccine)

Leen Funjan, Iman Funjan, Yara Funjan, Areen Funjan and Ahmad Funjan*

Sample of ten patients defected with medulloblastoma and rhabdomyomas are selected to treat by heavily armed vector (Epstein Barr Virus with catalase enzyme supported with long chain of phosphate group synthesized in self-funded laboratory with esterase enzyme). Ten samples of patients were invited from Jordan University of science and technology university hospital and king Hussein cancer center of these ten samples five defected with primitive neuroectodermal tumors (medulloblastoma) and the other five defected with primary tumors in infants and children of heart (rhabdomyomas). Nine of ten were selected to expose to catalase enzyme of one to six genes of the vector capsid envelop protein and it takes seven days; the last is exposed to insertion of phosphate group chain inside tumor cells by stereotactic microinjection armed (EBV) by this group inside brain tumors (medulloblastoma) and primary heart tumors (rhabdomyomas),other ten exposed directly forward to acetyl esterase gene by viral vector instead of seven and eight genes which are defected genes for human as considered other expose to three stages with effectively potential Armed vector of medulloblastoma and rhabdomyomas. This study showed significantly prolonged median survival time of 10 days for the first exposing of armed catalase enzyme in order to get catalysis procedure inside tumors itself when it reacts with c-AMP then to destroy both tumors (case of control inside tumor cells and the reagent is PCR) which can indicate the tumor controlling when the bands get the same size on gel electrophoresis 95 Kbp; the second case is using long armed chain p-group which allow to help catalase enzyme to get catalysis procedure inside brain and heart then it will react with c-AMP to destroy SHH and NOTCH genes in medulloblastoma in the brain and rhabdomyomas in the heart and it takes 25 days. The final result takes 27 days and it started from the beginning of consisting 3 factors which are 1-catalaseenzyme located from gene 1 to 6 of the vector 2-phosphate group inside tumor cells via vectors 3-estrase gene. all of these genes collected together in a single chain with 5Ë?-p-group to construct a strong-Armed vector to do as a surgical neuroonclogist in the operating room of primitive neuroectodermal tumor and primary heart tumor in infants and children to remove fully seized of tumors in both cases which has 10 patients of them by acting as precursor of c-AMP to fully destroyed SHH and NOTCH genes without altering the expression of 5-p-group; catalase enzyme; esterase enzyme in the tumor cells. We conclude that Epstein Barr Virus which Armed by catalase gene; 5 prime-p-group; esterase gene solved the biggest problem in the world medulloblastoma and rhabdomyomas in tumors in cerebellum and heart of infants and children without any toxic side effect of both diseases’ treatment. The prolonged survival time for 10 samples receiving this dose by armed vector appeared that no neurological symptoms in both tumors brain and heart.

Редакционный

Past Webinar Report on Human Genetics 2020

David Smith

Conference series LLC hosted a “10th International Conference on Human Genetics and Genetic Diseases" September 21-22, 2020.

Conference Highlights

  • Human Genetics
  • Genetics Disorders
  • Molecular Genetics
  • Medical Genetics
  • Epigenetics
  • Gene Therapy
  • Stem Cell Research
  • Cytogenetics
  • Genetic counseling
  • Biochemical Genetics
  • Genomics
  • Population Genetics
  • Developmental Genetics
  • Clinical Genetics
  • Cancer Genetics
  • Pharmacogenetics
  • Immunogenetics

Active participation and generous response were received from the Organizing Committee Members, scientists, researchers, as well as experts from Non-government organizations, and students from diverse groups who made this webinar as one of the most successful and productive events in 2020 from Conference Series LLC.

The webinar was marked with multiple sessions, Keynote presentations, panel discussions, and Poster sessions. We received active participation from scientists, young and brilliant researchers, business delegates and talented student communities representing more than 35 countries, who have driven this event into the path of success.

The webinar was initiated with a warm welcome note by Honorable guests and the Keynote forum. The proceedings went through interactive sessions and panel discussions headed by honorable Moderator. 

The webinar proceedings were carried out through various Scientific-sessions and plenary lectures

Conference series LLC has taken the privilege of felicitating Human Genetics 2020 Organizing Committee, Keynote Speakers who supported for the success of this event. Conference series LLC on behalf of the Organizing Committee, congratulates the Best Poster awardees for their outstanding performance in the field of Human Genetics and appreciates all the participants who put their efforts in poster presentations and sincerely wishes them success in future endeavors.

We are also obliged to various delegate experts, company representatives and other eminent personalities who supported the webinar by facilitating active discussion forums. We sincerely thank the Organizing Committee Members for their gracious presence, support, and assistance towards the success of Human Genetics 2020.

For More details visit: https://humangentics.conferenceseries.com

Contact us: humangenetics@eventsinfo.org

Тезисы добавленной стоимости

Next-Generation Sequencing (NGS) -The future of Genomic Medicine is here. Genomics -The Alexander who conquered the world!

Manjeet Mehta

The Human Genome Project has given us information on the structure of human DNA and how the human genome functions. It has helped identify and isolate human genes, particularly those associated with disease; and has drastically altered our approach to medical care.

Medical professionals conventionally use diagnostics to select the appropriate treatment in almost 70% of their cases. Due to recent advances there has been an increase in the role of molecular genetics and genomics testing in the clinical diagnostics services.

Medical genomics is the speciality of applying and integrating genomic data, as well as information from functional genomics, the genome structure, population studies, epigenomics, proteomics, analysis of systems and pharmacogenomics, all this leading to a better understanding of the genetic bases of drug response and disease initiation & progression.

Genomic testing has brought in a new period in medicine, leading to a medical revolution which is purely evidence-based. Today the genotype gives information about not only the confirmed diagnosis, but even the classification, severity, prognosis, and the best treatment

Healthcare delivery is being transformed by clinical genomics, profoundly altering our approach to medical care, from one of treatment of advanced disease to prevention based on the identification of individual risk.

 

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