نتایج جستجو برای: single strand conformation polymorphism sscp
تعداد نتایج: 995449 فیلتر نتایج به سال:
Infrapopulation genetic variation of the oioxenous, hermaphroditic flatworm Nasicola klawei (Monogenea: Capsalidae) infecting the nasal cavities of nine yellowfin tuna, Thunnus albacares, from the Gulf of Mexico was analyzed using the first internal transcribed spacer (ITS1) single strand conformation polymorphism (SSCP), ITS1 sequencing, and amplified fragment length polymorphism (AFLP). Of a ...
BACKGROUND Mutations in codons 12, 13, and 61 of the N-ras gene are common alterations in cutaneous malignant melanoma. We evaluated pyrosequencing, a simple and rapid method used mainly for single-nucleotide polymorphism analysis, as a possible alternative to single-strand conformation polymorphism (SSCP) analysis and sequencing of N-ras. METHODS We evaluated the sensitivity and accuracy of ...
Background and purpose: Development of the male phenotype and the initiation of spermatogenesis are intricately dependent on the cellular events that respond to androgens. The actions of androgens are mediated by the androgen receptor (AR). The aim of this study was to investigate the association of AR 5'UTR and codon 211 genetic variation with the risk of idiopathic male infertility. Material...
Single-strand conformation polymorphism (SSCP) analysis is widely used to prescreen mutations in p53 gene. However, standardization of SSCP to detect p53 mutations has rarely been pursued so far. We have developed complete conditions for a temperature-controlled nonradioactive SSCP for mutation detection in amplified p53 exons 4-8, where mutations frequently occur in human tumors. Easily obtain...
We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in th...
Glanzmann thrombasthenia (GT) is the most common inherited disorder of platelets. Most of the molecular defects previously identified in GT have been caused by point (or other small) mutations in the genes for glycoprotein (GP) IIb or GPIIIa. We have used single-strand conformation polymorphism (SSCP) analysis to rapidly identify single-base changes in the GPIIIa gene. Using genomic DNA from no...
Myostatin, a transforming growth factor-beta superfamily member, has been well documented as a negative regulator of muscle growth and development. Myostatin, which has 376 amino acids, is synthesized as a precursor protein. Polymorphism of the myostatin gene in Makoei sheep was investigated by PCR and single-strand conformation polymorphism technique (SSCP). Genomic DNA of 92 sheep was is...
چکیده زمینه و هدف: بتا تالاسمی یکی از شایع ترین بیماری های ژنتیکی در ایران است و بیش از دو میلیون حامل بتا تالاسمی در ایران وجود دارد. شناسایی جهش های ژن بتاگلوبین برای برنامه های تشخیصی و مدیریتی معین مانند تشخیص پیش از زایمان بیماری بتاتالاسمی ضروری است. در کشور ما روش pcr-arms(pcr-amplification refractory mutation system) بطور گسترده برای شناسایی جهش های ژن بتا گلوبین استفاده می شود. روش برر...
OBJECTIVE The present study evaluated the association between lactotransferrin (LTF) gene polymorphism (exon 2, A/G, Lys/Arg) and dental caries. MATERIAL AND METHODS A convenience sample of 110 individuals, 12 years old, was divided into: group 1, 48 individuals without caries experience (DMFT=0), and group 2, 62 subjects with caries experience (DMFT>or=1). DNA was obtained from a mouthwash w...
Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...
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