introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...

Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...

This study investigated the atopic march on basis of genetics. research detected 227 variants in filaggrin gene (FLG gene). Missense, silent, non-sense, frame-shift and non-coding mutations were exon 3 FLG patients with bronchial asthma, dermatitis, allergic rhinitis mixed atopy. Missense mutation was at c.8343 G > C (p. Asp2781Glu) all adult asthmatic patients. Whereas, c.8360 T/A Arg2787 His/...

Amelogenin gene (AMEL-X) encodes an enamel protein called amelogenin, which plays a vital role in tooth development. Any mutations in this gene or the associated pathway lead to developmental abnormalities of the tooth. The present study aims to analyze functional missense mutations in AMEL-X genes and derive an association with amelogenesis imperfecta. The information on miss...

Background: Apolipoprotein A2 (APOA2) is the second major apolipoprotein of the high-density lipoprotein cholesterol (HDL-C). The study aim was to identify APOA2 gene variation in individuals within two extreme tails of HDL-C levels and its relationship with HDL-C level. Methods: This cross-sectional survey was conducted on participants from Tehran Glucose and Lipid Study (TLGS) at Research Ins...

A suppressor mutation specific for a missense codon in the L-ribulokinase structural gene of the L-arabinose operon of Escherichia coli B/r enhanced L-arabinose utilization by the strain containing the missense codon. Electrophoretic comparisons of the wild-type, missense, and suppressed missense L-ribulokinases indicated that the suppressor changed the structure of the missense kinase, thereby...

Analysis of Missense Mutations CX3CR1 Gene in Patients with Recurrent Pregnancy Loss Using Bioinformatics Tools

102 complete COVID-19 genomes have been collected from the viral database to track and characterize novel variants. The data were treated bioinformatically so that 172 variants, with 127 unique 45 polymorphic variants found. consist of 76 missense, 39 synonymous, 6 non-coding, 5 deletions 1 insertion. 25 15 4 non-coding in-frame-deletion. Most common are 28144T>C (33 missense), 8782C>T (31 syno...