نتایج جستجو برای: gene deletion
تعداد نتایج: 1179434 فیلتر نتایج به سال:
Background: Hypercoagulability and hypofibrinolysis are among the symptoms exhibited by diabetic patients. Our study aimed to address the polymorphic nature of Alu DNA fragment in the human tissue plasminogen activator gene within diabetes mellitus (DM) Jordanian patients. Methods: Genomic DNA was isolated from 76 DM patients and 60 non-diabetic Jordanian individuals, and the Alu fragment was a...
Abstract Background: Sensorineural hearing loss is one of the most common defects and half the cases are related to genetic factors. Given the importance of GJB2 mutations in hearing loss, this study was performed to study the impact of this mutation on hearing loss in selected families suffering from deafness. Materials and Methods: A descriptive study was performed on 8 GJB2 heterozygous ...
background: haemophilia a (ha) is an x-linked bleeding disorder caused by the absence or reduced activity of coagulation factor viii (fviii). coagulation factors are a group of related proteins that are essential for the formation of blood clots. the aim of this study was to genotype the coagulation factor viii gene mutations using inverse shifting pcr (is-pcr) in an iranian family with severe ...
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
This research aimed to explore the ACE (insertion/deletion) gene association as key factor for chronic obstructive pulmonary disease (COPD) development in north Indian population. A total of 200 clinically diagnosed patients with COPD were selected against 200 healthy individuals. Genetic variations of ACE (insertion/deletion) were evaluated by using polymerase chain reaction ...
identification of associated genes with energy balance, yield and feed intake are recent interests of the animal breeding researchers. najdi breed is the famous cattle breed in the khuzestan province. in this research for the investigation of leptin gene promoter ,from 15 najdi cows in the shushtar cattle center station was taken. dna from whole blood was extracted and 544bp and 566 bp two piec...
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
objective: the brucella melitensis virb operon, encoding a type iv secretion system (t4ss), is required for intracellular replication and persistent infection in the mouse model. the product of the second gene of the virb operon, virb2, is predicted to be localized at the bacterial surface, where they could potentially interact with host cells. studies to date have focused on characterization o...
Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deat...
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