نتایج جستجو برای: amplification refractory mutation system

تعداد نتایج: 2569291  

زمانی, محمد, دانشی, احمد, ریاض‌الحسینی, یاسر, ریحانی‌فر, فرحناز, نجم‌آبادی, حسین, کهریزی, کیمیا, محسنی, مرضیه ,

    Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...

Journal: :iranian journal of public health 0
n saleh-gohari mr bazrafshani

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...

Journal: :IOP conference series 2021

Abstract This study included 80 blood specimens. Fifty samples collected from COVID 19 with age ranged between 02-75 years, and 30 specimens healthy as a control sample 91-63 years. The polymorphism of IFN-γ T/A +874 gene, which amplified by using amplification refractory mutation system (ARMS-PCR) was showed high percentage A allele frequency in patients comparison T frequency, the revealed et...

Journal: :Journal of laboratory physicians 2023

Abstract Objective The NUDT15 variants impact thiopurine dose selection in acute lymphoblastic leukemia patients. ability to rapidly detect is important clinical practice. This study aims develop a simple polymerase chain reaction (PCR) procedure for detecting Vietnamese Materials and Methods Sanger sequencing was used determine from 200 We designed primers optimized the PCR detection of wild-t...

2011
Zhiyuan Wu Hong Yuan Xinju Zhang Weiwei Liu Jinhua Xu Wei Zhang Ming Guan

BACKGROUND JAK2 V617F, a somatic point mutation that leads to constitutive JAK2 phosphorylation and kinase activation, has been incorporated into the WHO classification and diagnostic criteria of myeloid neoplasms. Although various approaches such as restriction fragment length polymorphism, amplification refractory mutation system and real-time PCR have been developed for its detection, a gene...

Journal: :Indian Journal of Pharmaceutical Sciences 2022

The calreticulin gene has nine exons and most of the frequent mutations screened observed in 9th exon myeloproliferative neoplasm patients, especially essential thrombocythemia primary myelofibrosis. In current study, an uncommon mutation was a 51 y old man with polycythemia vera phenotype. Somatic novel homozygous affect 9 gene. These recent genetic variations were not reported previous studie...

Journal: :Euphytica 2021

Abstract The ideal plant architecture is a new strategy for super high yield breeding of rice. Tiller angle an important character A reasonable tiller key factor the and achieving high-yield breeding. Molecular design most potential direction crop in future. development accurate efficient functional molecular markers target trait genes crucial TAC1 ( Angle Controlling ) gene primary that regula...

Journal: :reports of biochemistry and molecular biology 0
fatemeh keify pardis clinical and genetics laboratory, mashhad, iran. mohsen azimi-nezhad pardis clinical and genetics laboratory, mashhad, iran - department of medical genetics, school of medicine, mashhad university of medical sciences, mashhad, iran - université de lorraine, unité de recherche “interactions gène-environnement en physiopathologie cardio vasculaire” l’umr inserm u 1122, ige-pcv, nancy, france. narges zhiyan-abed pardis clinical and genetics laboratory, mashhad, iran - razavi’s social welfare organization, mashhad, iran. mojila nasseri pardis clinical and genetics laboratory, mashhad, iran. mohammad reza abbaszadegan tel: +98 5117112343; fax: +98 5117112343

background: thrombophilia is a main predisposition to thrombosis due to a procoagulant state. several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. these thrombophilic mutations are methylenetetrahydrofolate reductase (mthfr, c677t, and a1298c), factor v leiden (g1691a), prothrombin gene mutation (factor ii, g20210a), and plasminogen...

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