Detection some Gap Junction gene mutations in hereditary deafness in Syrian families

The genetic study concerned with congenital hearing loss is still in its infancy in the Syrian society despite the noticeable spread of this disability

Exploring two mutations in the exon 28 of Von Willebrand genein two patients follow up the Halmshire hospital – university

Two mutations of exon 28 in the Von Willbrand gene have discovered intwopatients (female and male).Specific tests such as the VWF: FVIIIbinding assay, collagen binding assay VWF:CB and VWF proteinanalysis give that VWD is a type of 2A at the gene.Investigating exon 28 by PCR technique and DNA sequencingrevealed mutation A1(C>T) in patientA and a mutationB1(G>A) inpatientB. These mutations are responsible for the presence of VWD. Assuring that natural genes involved in coagulation are well organised and automated.