Abstract Background Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the molecu...

The main objective for plant breeding is to increase genetic diversity. Mutation induction is a method to increase genetic diversity associated with selection, recombination, or a combination of these approaches in plant breeding. The present research was aimed to compare efficacy of different doses of Gamma rays (150, 200, 250, 300 and 350 Gy and zero dose control) on the sesame morphological ...

Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...

ABSTRACTTuberculosis is an infectious disease which occurs widely in the world and becomes one of the top 10 causes of death worldwide. Mutations of the RpoB gene cause the resistance of Mycobacterium tuberculosis to rifampicin that contributes to the occurrence of MDR-TB. This study aimed to determine the pattern of rpoB gene polymorphisms in the MDR M. tuberculosis in Semarang, Indonesia. Mos...

An efficient method for scattering Genetic Algorithm (GA) individuals in the design space is proposed to accelerate airfoil shape optimization. The method used here is based on the variation of the mutation rate for each gene of the chromosomes by taking feedback from the current population. An adaptive method for airfoil shape parameterization is also applied and its impact on the optimum desi...

This is the first description of the polymorphisms of arylalkylamine-N-acetyltransferase (AA-NAT) gene in Indian goats with different reproductive traits (twinning percentage and age of sexual maturity). Based on the important role of AA-NAT in reproduction, it is considered as a possible candidate gene for this trait. Two novel synonymous SNPs, C825T (exon2) and C1249T (exon3) were identified....

myeloproliferative neoplasms (mpns) such as polycythemia vera, essential thrombocythemia, primary myelofibrosis and chronic myeloid leukemia have too similar and accurate way to differentiate their is study of genetic disorders in these patients. philadelphia chromosome is a sure way to definitively diagnose cml. recently, jak2v617f mutation introduced as a diagnostic marker for other myeloprol...

Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...