نتایج جستجو برای: tetra primer amplification refractory mutation system t

تعداد نتایج: 3165306  

Journal: :Egyptian Journal of Medical Human Genetics 2023

Abstract Background The apolipoprotein A5 ( APOA5 ) gene, significantly expressed in liver, has been involved regulation of triglyceride metabolism, plasma lipid levels, serum adipokine levels and cardiovascular traits. A single-nucleotide polymorphism rs662799 − 1131A > G), 2 Kb upstream the promoter region this causes decrease concentration product coded by gene; hence, it may be responsib...

Background and purpose: Beta-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of beta-globin gene expression. This study aimed to find out and determine the spectrum of beta-globin gene mutations and especially rare mutation in beta-carrier couple in Babolsar, north region of Iran. This is very important in perinatal diagnosis of thalassemia. Materia...

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: :BioTechniques 1997
Q Liu E C Thorland S S Sommer

A T-->C point mutation is shown to specifically inhibit PCR amplification when compared to wild-type controls in exon H of the factor IX gene. Multiple primers of different lengths and locations were designed to examine this phenomenon. The experiments suggest that poor annealing and/or extension from the downstream primer are responsible for the observed inhibition and that the mutation can ex...

Journal: :Journal of Alzheimer's disease : JAD 2012
Pawel Gaj Agnieszka Paziewska Wojciech Bik Michalina Dąbrowska Agnieszka Baranowska-Bik Maria Styczynska Małgorzata Chodakowska-Żebrowska Anna Pfeffer-Baczuk Maria Barcikowska Boguslawa Baranowska Jerzy Ostrowski

Late onset Alzheimer's disease (LOAD) accounts for about 95% of all Alzheimer's disease cases. While the APOE ε4 variant seems to have unparalleled influence on increased LOAD risk, it does not explain all of the heritability of LOAD. In this study, we present the application of a cost-effective, pooled DNA genome-wide association study (GWAS) to uncover genetic risk variants associated with LO...

2015
Mohammad Hashemi Simin Sadeghi-Bojd Khaled Rahmania Ebrahim Eskandari-Nasab

Introduction. Nephrin and podocin proteins, encoded by NPHS1 and NPHS2 genes, are essential for the integrity of the glomerular filter. The present study was aimed to investigate whether NPHS1 rs437168 and NPHS2 rs61747728 genetic variants are involved in the susceptibility to nephrotic syndrome (NS). Materials and Methods. This case-control study was performed on 108 children with NS and 97 he...

Journal: :Molecular and clinical oncology 2017
Kazuhiko Sakamoto Shigeru Takeda Shinsuke Kanekiyo Mitsuo Nishiyama Masahiro Kitahara Tomio Ueno Shigeru Yamamoto Shigefumi Yoshino Shoichi Hazama Naoko Okayama Hiroaki Nagano

The purpose of this study was to evaluate the association between tumor necrosis factor (TNF)-α polymorphisms and oral mucositis (OM) from 5-fluorouracil (5-FU) plus cisplatin (CDDP) chemotherapy for esophageal cancer. The rs1799964 polymorphism of TNF-α was genotyped using the tetra-primer amplification refractory mutation system polymerase chain reaction. The experimental group comprised 64 p...

Journal: :Journal of toxicology and environmental health. Part A 2010
Suhng Wook Kim Ji Hye Heo Chun Huem Kim Dong Chul Yoo Dong Hwan Won Seung Gwan Lee Kyoung Jin Cho Jung Han Song Su Jeong Park Young Geun Yang Dal Woong Choi

Polymerase chain reaction (PCR) is a powerful molecular biological tool in the field of toxicity testing and diagnostics. The use of PCR for large-scale genetic testing requires an effective method of sample processing. Unfortunately, isolation of PCR-quality DNA is time-consuming. PCR performed directly on whole blood is preferred because of time efficiency, cost of the procedure, and possible...

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