نتایج جستجو برای: amplified refractory mutation system

تعداد نتایج: 2553865  

2018
Lisha Yang Iqra Ijaz Jingliang Cheng Chunli Wei Xiaojun Tan Md Asaduzzaman Khan Xiaodong Fu Junjiang Fu

Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). ...

Journal: :Indian journal of biochemistry & biophysics 2003
Akanchha Kesari Monisha Mukherjee Balraj Mittal

Polymerase chain reaction (PCR), followed by restriction digestion is universally used for molecular diagnosis of spinal muscular atrophy (SMA). In the present study, we have used a modified strategy based on amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) to develop a rapid and reliable method for mutation detection and prenatal diagnosis in SMA patients. The telo...

M. Zeinali S. Delmaghani S. Zeinali Z. Azizi, Z. Moghaddam

Background: It is estimated that about 3,000 pregnancies in Iran are at risk for b-thalassemia each year. Objective: To evaluate the diagnostic accuracy of combination of ARMS/PCR and  RFLP/PCR techniques in prenatal diagnosis of b-thalassemia.Methods: Sixty-seven b-thalassemia carrier families were enrolled in this study. To analyze b-globin gene, amplification refractory mutation system (ARMS...

Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...

Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of the...

Abolghasemi H, Keikhaei B, Shariati G,

Background: Beta thalassemia gene mutations are among common mutations in southwest Iran. However, Hemoglobin E (Hb E) and Hb E/β⁰ thalassemia account for a small number of hemoglobinopathies in Iran. This is the first study to directly address the existence of Hb E and consequently Hb E/β⁰ thalassemia in southwest Iran. Methods: This retrospective study discovered seven cases of Hb E/β⁰ thal...

Journal: :Nucleic acids research 1989
C R Newton A Graham L E Heptinstall S J Powell C Summers N Kalsheker J C Smith A F Markham

We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis. The system is simple, reliable and non-isotopic. It will clearly distinguish heterozygotes at a locus fro...

Journal: :iranian journal of biotechnology 2008
seyed ali mohammad shariati mehrdad behmanesh hamid galehdari ali fathian

schizophrenia is a severe neuropsychiatric disorder with symptoms such as hallucination, delusion and mental disorder. it is a complex disorder, in which genetic components play a crucial role in its pathogenesis. among candidate genes for schizophrenia, neuregulin 1 (nrg1) gene is the most important gene,  association of which with the illness has been confirmed in several studies. single nucl...

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