Human Genetics
Chédiak-Higashi Syndrome
Chédiak-Higashi syndrome is characterized by varying degrees of oculocutaneous albinism, recurrent infections, bleeding disorders and variable neurological involvement. It is a rare autosomal recessive disorder. The treatment consists of bone…
Read more ›Fertilization and Fertilization Anomalies in Humans after Sperm Injection into the Oocyte
Fertilization is the process of paternal and maternal chromosomes uniting in the activated oocyte. The most frequent reason for fertilization failure is sperm incapacity to penetrate into the oocyte. In…
Read more ›The influence of alpha and beta fibrinogen genes’ polymorphisms on plasma fibrinogen level
Elevated plasma fibrinogen concentration is a risk factor for cardiovascular diseases. In addition to several factors such as advanced age, diabetes mellitus, cardiovascular diseases, elevated plasma cholesterol and glucose, and…
Read more ›Relationship between cytochrome P450 (CYP1A1) gene polymorphism and lung cancer susceptibility in Slovene population
Two polymorphic sites of the CYP1A1 gene, coding for cytochrome P4501A1 enzyme, have been discovered so far. One involves the 7th exon of the coding region; a nucleotide change leads…
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