The CRISPR system consists of a guide RNA (gRNA) complementary to target editable DNA sequence and CRISPR-associated endonuclease (Cas). gRNA Cas together form ribonucleoprotein (RNP) complex. guides the enzyme precise site for cutting DNA. In bacteria, leads viral destruction. This ingenious bacterial immune principle has been used design an organism’s genome at locations gene editing purposes...

autosomal polycystic kidney disease (adpkd) is a genetic disorder with two causal pkd-1 and pkd-2. genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in african populations. we report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to adpkd. molecular genetic testing found a del...

In order to study the initiation of transcription from the ovalbumin gene promoter, we constructed a hybrid gene (ovalglobin) in which 753 bps of ovalbumin gene 5'-flanking sequence were joined to the chicken adult beta-globin gene. When transfected into HeLa S3 cells, ovalglobin gene transcription initiated at the ovalbumin gene cap site, as measured by S1 nuclease and primer extension analysi...

objective: interaction between genetic and environmental factors is considered as major factors in schizophrenia (scz). it has been shown that dopaminergic and noradrenergic neurotransmission dysfunction play an essential role in the scz pathogenesis. this study aimed to find the impact of functional 19-bp insertion/deletion (ins/del) polymorphism in dopamine beta-hydroxylase (dbh) gene on scz ...

Abstract Inherited eye diseases have been the subject of genetic research for many years. This paper focuses on optimisation DNA test based polymerase chain reaction (PCR) detection Collie Eye Anomaly (CEA) in dogs. A small family four longhaired Collies (parents and their daughters) with a confirmed positive clinical ophthalmologic examination CEA served as source affected animals. Both PCR co...

PTEN deletion is an established prognostic biomarker in prostate cancer. We compared PTEN immunohistochemistry (IHC) and PTEN fluorescence in situ hybridization (FISH) in the largest existing radical prostatectomy cohort with clinical follow-up data. There was high concordance between IHC and FISH: 93% (3098/3330) of tumors with intact PTEN IHC showed absence of PTEN gene deletion and 66% (720/...

depending on the sensitivity of the method, deletions may be detected at the majority (60-65 %) of duchenne/becker muscular dystrophy (dmd/bmd) cases. duplications may be seen in approximately 5 -10% and the remaining mutations are point mutations, intronic deletions, exonic insersions of repetetive sequences and combinations of all. severity of the disease does not correlate with the size of t...

Introduction . 13q14 deletion is the most common chromosomal abnormality in chronic lymphocytic leukemia (CLL), and as sole determines favorable prognosis of disease. Using molecular genetic methods two subtypes were identifi ed based on size lost material: small (type I) with involvement D13S319 segment containing MIR15A / MIR16-1 DLEU1 genes large II) centromeric region involving RB1 gene. Da...