BACKGROUND Monosomic alien addition lines (MAALs) can easily induce structural variation of chromosomes and have been used in crop breeding; however, it is unclear whether MAALs will induce drastic genetic and epigenetic alterations. METHODOLOGY/PRINCIPAL FINDINGS In the present study, wheat-rye 2R and 5R MAALs together with their selfed progeny and parental common wheat were investigated thr...

Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping techniques, most CNV detection methods are limited to detecting total copy numbers, rather than copy number in each of the two homologous chromosomes. To address this issue, we developed a statistical framew...

The genetic basis of the variation in activity of the mammalian enzyme which catalyzes the oxidation of N1-methylnicotinamide to N1-methyl-4-pyridone-3-carboxamide has been investigated. The data indicate that in mice the magnitude of the enzyme activity depends on a pair of autosomal alleles, one of which determines a high level, the other a low level, of enzyme activity. Differences in enzyme...

introduction oculocutaneous albinism (oca) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. conclusions a novel homozygous mutation, the deletion of exons 1 - 5 on the tyr gene, was found on the molecular genetic testing of this patient. exon 1 - 5 deletion on tyr causes a lack of ...

Gastric cancer used to be the leading cause of cancer deaths in the world until the 1980 when it was overtaken by lung cancer.1 Nowadays, stomach cancer is the second leading cause of cancer death in both sexes worldwide. In spite of worldwide global decrease, in 2020 (using computing models), the prevalence of gastric cancer is expected to rise in Portugal, for both sexes (Globocan). Most pati...

BACKGROUND The prediction of recurrent venous thrombosis using individual genetic risk predictors has proven to be challenging. The aim of this study was to assess whether multiple genetic single nucleotide polymorphism (SNP) analysis would predict recurrent venous thrombosis. METHODS AND RESULTS Patients with a first venous thrombosis were followed for a recurrent venous thrombosis up to 200...

Vitamin E (VE) is the generic term for four tocopherols and four tocotrienols that exhibit the biological activity of α-tocopherol. VE status, which is usually estimated by measuring fasting blood VE concentration, is affected by numerous factors, such as dietary VE intake, VE absorption efficiency, and VE catabolism. Several of these factors are in turn modulated by genetic variations in genes...

Investigating genetic diversity in plant species provides a platform for further insight in plant breeding and conservation. Therefore, in the present study genetic diversity of 13 geographically isolated genotypes of Zhumeria majdea, as a seriously endangered medicine plant growing exclusively in Hormozgan province (South of Iran) was studied. To do so, the leaf samples of Z. majdea were colle...

The introduction of molecular markers in genetic analysis has revolutionized medicine. These molecular markers are genetic variations associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification, pharmacogenetics...