نتایج جستجو برای: g in exon 2
تعداد نتایج: 17477484 فیلتر نتایج به سال:
conclusions bioinformatics analyses using sift, mutation taster and polyphen-2 indicated that p.ile563val was predicted to be damaging, disease causing, and probably damaging to and causing ldb3 dysfunction. as such, this mutation produces novel protein coding transcripts, which might explain the mfm phenotype in the patient. introduction myofibrillar myopathy (mfm) is a rare human disease, cha...
Background and Objective: Antibody secretion in human may be the result of the changes in protein structure. Probably these changes in protein structure or polymorphism in human thyroid peroxidase (TPO) gene is the reason for presence of the anti TPO. In this study, we examined the association of T2229/C exon 12 polymorphism of TPO gene in respect to anti-TPO level. Materials and Methods: In th...
There different RFLP's on the p53 gene were studied in a healthy Turkish population. These RFLP's were located on the exon 4 (CD 47), exon 6 (CD 213) and intron 6 (A-G). CD 47 (C-T) was not present. CD 213 (G) occurred very rarely with a frequency of 0.0114. The frequency of the Int 6 A/G a alteration was found to be 0.70 for "G". The heterozygosity rate was 32.72%.
The current study was conducted in private station located the middle of Iraq by using 100 blood samples from Holstein cows to isolate DNA and determine genotypes TNF-α gene tow regions on reproductive performance. Results showed two alleles with co-dominance three detected 1st position (4th exon), allele frequency 0.695 0.305 for A C respectively. 2nd region (Flank region) 0.64 0.36 G a signif...
The SCN5A gene encodes for the INa channel implicated in long QT syndrome type-3 (LQTS-type-3). Clinical symptoms of this type are lethal as most patients had a sudden death during sleep. Screening of SCN5A in South Indian cohort by PCR-SSCP analyses revealed five polymorphisms - A29A (exon-2), H558R (exon-12), E1061E and S1074R (exon-17) and IVS25 + 65G > A (exon-25) respectively. In-silico an...
We hypothesized that host antiviral genes induced by type I interferons might affect the natural course of severe acute respiratory syndrome (SARS). We analyzed single nucleotide polymorphisms (SNPs) of 2',5'-oligoadenylate synthetase 1 (OAS-1), myxovirus resistance-A (MxA), and double-stranded RNA-dependent protein kinase in 44 Vietnamese SARS patients with 103 controls. The G-allele of non-sy...
The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%, respectively, whereas in healthy chil...
X‑linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X‑linked dominant disorder caused by mutations in the phosphate‑regulating neutral endopeptidase homolog X‑linked (PHEX) gene, which is located at Xp22.11. In the present study, two novel variants of the PHEX gene were identified in two unrelated families with XLHR by directly sequencing all 22 exon regions and intron/exon boundaries o...
DNA polymorphism within diacylglycerol transferase 2 (DGAT2) / monoacyl glycerol transferases 2 (MOGAT2), leptin and butyrophilin genes were analysed using PCR-SSCP in Murrah buffalo. The single strand conformation polymorphism (SSCP) analysis of amplified gene fragment in exon 5 of MOGAT2, exon 3 of leptin and intron 1 of butyrophilin gene revealed different patterns. A, B and C showed the fol...
We have analyzed 83 unrelated Hong Kong Chinese for the presence of genetic variants of factor V gene. Forty-three of them had a history of deep vein thrombosis. The DNA sequence variations of exons 7, 10, and 13, where the codons for Arg306, Arg506, and Arg679 are located, respectively, were studied by denaturing gradient gel electrophoresis. The G1691-->A (Arg 506-->Gln) mutation in exon 10 w...
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