H EMOPI-IILIA A, the most common congenital bleeding disorder, affects I in 10,000 to 20,000 males. The molecular lesions are heterogeneous and only I 0% of specific defects had been characterized so far. These included ddetions and point mutations.’ 8 Most of the point mutations detected involved the recognition site (TCGA) for the restriction enzyme Taq I and of these, most are associated wit...

Recent molecular studies have shown that in a patient with Duchenne muscular dystrophy (DMD) Kobe, the size of exon 19 of the dystrophin gene was reduced to 36 bp due to the deletion of 52 bp out of 88 bp of the exon. The consensus sequences at the 5' and 3' splice sites of exon 19 were unaltered (Matsuo, M., et al. 1990. Biochem. Biophys. Res. Commun. 170:963-967). To further elucidate the mol...

The aim of this study was to investigate the serology and gene sequence characteristics of the A307 subgroup of ABO blood group. Monoclonal anti-A and anti-B antibodies were used to detect the ABO antigens of a proband whose positive blood type was not consistent with the negative blood type of ABO blood group. Meanwhile, standard A-, B-, and O-negative typing cells were used to test for ABO an...

The class I phosphoinositide 3-kinases (PI3Ks) are especially involved in the cell response to extracellular signals and convert phosphatidylinositol-(4,5)-bisphosphate (PIP2) into phosphatidylinositol-(3,4,5)-triphosphate (PIP3), an important intracellular " second messenger " , activating many different intracellular enzymes, including Akt also known as protein-kinase B. Class IA PI3Ks are he...

The resistance and susceptibility of sheep to the common abomasal nematode parasite, Teladorsagia circumcincta is strongly associated with the differential polarization of the immune response. Resistant animals control larval colonization by the production of a protective antibody response regulated by Th2 T cells. Susceptible sheep respond to infection by developing an inflammatory Th1/Th17 re...

TP53 gene plays a critical role in the follow-up of different cancer cases, including diagnosis and treatment mutation P53 gene. It harms encoded protein less function types due to has many mechanisms eliminate cells, like apoptosis, cell cycle arrest, DNA repair. This study aims detect abnormality change sequence correlation with Mosul city extraction depends on manual description from blood, ...

The t(5;11)(q35;p15.4) is a clinically significant marker of poor prognosis in acute myeloid leukemia (AML), which is difficult to detect due to sub-telomeric localization of the breakpoints. To facilitate the detection of this rearrangement, we studied NUP98-NSD1 transcript variants in patients with the t(5;11) using paired-end RNA sequencing and standard molecular biology techniques. We disco...

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS...

OBJECTIVE In familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. We investigated a large kindred in which low-density lipoprotein cholesterol, fatty liver, and hepatocarcinoma displayed an autosomal dominant pattern of inheritance. APPROACH AND RESULTS The proband was a 25-year-old female with lo...

The molecular backgrounds of variants encountered in Afro-Caribbean black individuals and associated with the production of clinically significant antibodies against high-incidence antigens (anti-RH18, anti-RH34) and against Rhe epitopes were determined. We showed that RH:-18 phenotypes are produced by 3 distinct RHCE alleles: ceEK carrying 48G>C (exon 1), 712A>G, 787A>G, 800T>A (exon 5); ceBI ...