Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the patho...

Calpastatin (CAST) is a specific inhibiter of Calpains, playing a role in meat tenderization and myogenesis. In the present study the polymorphism of the CAST gene ofKhalkhali goat in Azerbaijan province in Iran was investigated by polymerase chain reaction and restriction fragment length polymorphism technique (PCR-RFLP). Genomic DNA was extracted from whole blood samples collected from 200 Kh...

The breeding system of Arabidopsis suecica was investigated through genetic analysis of microsatellite segregation patterns in five controlled crosses as well as in 16 single-mother families collected in the wild. Analysis of single and two-locus segregations in the F2 generation following a cross clearly shows that A. suecica is reproduces sexually. The single-mother families show a high level...

A classical paradigm in population genetics is that homozygosity or inbreeding affects individual fitness through increased disease susceptibility and mortality, and diminished breeding success. Using data from an insular population of mouflon (Ovis aries) founded by a single pair of individuals, we compare embryo number of ewes with different levels of inbreeding. Contrary to expectations, ewe...

The rate of decay of genetic variation is determined for randomly mating autotetraploid populations of finite size, and the equilibrium homozygosity under mutation and random drift is calculated. It is shown that heterozygosity is lost at a slower rate than in diploid populations, and that the equilibrium heterozygosity with mutation and random drift is higher than for diploids. Outcrossing pop...

We propose a new visual analytics system designed for genetic researchers to study genome-wide homozygosity regions. Finding significant tracts of homozygosity (TOH) using single nucleotide polymorphisms (SNPs) from a large-scale genome data set can contribute to the discovery of genetic factors related to human diseases. Our system helps users to visually examine TOH clusters computed from the...