نتایج جستجو برای: tetra primer amplification refractory mutation system t

تعداد نتایج: 3165306  

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...

E Rezaei , H Dastsooz , H Faraji , J Manoochehri , Kh Sadeghi , M Fardaei , R Masoumi Dehshiri , S Mohammadi , T Moradi ,

Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...

Journal: :gene, cell and tissue 0
seyed mohammad hashemi-shahri infectious diseases and tropical medicine research center, zahedan university of medical sciences, zahedan, ir iran mohsen taheri genetics of non-communicable disease research center, zahedan university of medical sciences, zahedan, ir iran; department of genetics, school of medicine, zahedan university of medical sciences, zahedan, ir iran; department of genetics, school of medicine, zahedan university of medical sciences, zahedan, ir iran. tel: +98-5413425793, fax: +98-5413425796 ali gadari infectious diseases and tropical medicine research center, zahedan university of medical sciences, zahedan, ir iran mohammad naderi infectious diseases and tropical medicine research center, zahedan university of medical sciences, zahedan, ir iran gholamreza bahari department of clinical biochemistry, school of medicine, zahedan university of medical sciences, zahedan, ir iran mohammad hashemi department of clinical biochemistry, school of medicine, zahedan university of medical sciences, zahedan, ir iran

conclusions tlr8 rs3764880 and tlr9 rs148805533 polymorphisms may not be risk factors for susceptibility to tuberculosis in a sample of iranian population. larger studies are required to validate our findings. results the allelic and genotypic frequencies of the tlr8 rs3764880 did not differ significantly between ptb and the controls. no significant difference was found between the groups regar...

Journal: :Clinical chemistry 1998
D Whitcombe J Brownie H L Gillard D McKechnie J Theaker C R Newton S Little

We have developed a method whereby a single TaqMan probe can be used for many PCR reactions. We demonstrate its application as an integrated system for the direct measurement of allele-specific amplicon generation coupled to the suppression of primer-dimer accumulation in PCR. The system uses a 5'-exonuclease assay of amplicon annealed fluorogenic probes that operates in conjunction with the Am...

A Ghasemi, A Ghotaslou, B Chahardouli, F Nadali, S Abbasian, S Rostami,

Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of present study was to investigate the fre...

ژورنال: پژوهش در پزشکی 2004
اکرم نریمانی, , , Derakhshan F, سروین پیمان, , سید جواد میرحسنی مقدم, , فرامرز درخشان, , فرناز تقی زاده, , محمدرضا زالی, , نسترن نوروزی, ,

Background : Familial Mediterranean fever (FMF) is an autosomal recessive disease, which is characterized by recurrent short episodes of inflammation in serous membranes. It is most prevalent in Western Mediterranean population. MEFV is the only gene currently known to be associated with this disease. Previous studies revealed that 6% of Iranian Jewish residents in Israel were carriers of MEFV ...

بهار, بابک, توگه, غلام‌رضا, درگاهی, حسین, علی‌مقدم, کامران, عین‌الهی, ناهید, غفاری, سیدحمید‌اله, قوام‌زاده, اردشیر, موسوی, اسداله, نادعلی, فاطمه, چهاردولی, بهرام, کریم‌زاده, پریسا, ‌فردوسی, شیرین,

Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. In this study we compared the amplification refractory mutation (ARM...

Journal: :Clinical molecular pathology 1996
G A Scobie S T Ho G Dolan N A Kalsheker

Aim-To develop a rapid, simple and highly specific DNA screening procedure based on the amplification refractory mutation system (ARMS) to detect the Leiden mutation in whole blood.Methods-ARMS PCR amplification primers with additional mismatches at either -2 or -3, which greatly improves specificity, were constructed to detect the normal Factor V gene and the Leiden mutation in whole blood sam...

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