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Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority. [1] Many people never have symptoms. [ 1 ] Occasionally jaundice (a slight yellowish color of the skin or whites of the eyes) may occur.
Pseudodominance is the situation in which the inheritance of a recessive trait mimics a dominant pattern. [1]Normally, two recessive alleles need to be inherited (one from each parent) for the recessive trait to be expressed but recessive merely means that the trait is only expressed in the absence of the dominant alleles.
Population genetics is the branch of evolutionary biology responsible for investigating processes that cause changes in allele and genotype frequencies in populations based upon Mendelian inheritance. [3] Four different forces can influence the frequencies: natural selection, mutation, gene flow (migration), and genetic drift. A population can ...
A deficiency in the bilirubin specific form of glucuronosyltransferase is thought to be the cause of Gilbert's syndrome, which is characterized by unconjugated hyperbilirubinemia. It is also associated with Crigler–Najjar syndrome , a more serious disorder where the enzyme's activity is either completely absent (Crigler–Najjar syndrome type ...
As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent who has the disorder.
The pseudoautosomal regions or PARs are homologous sequences of nucleotides found within the sex chromosomes of species with an XY [1] or ZW [2] mechanism of sex determination. The pseudoautosomal regions get their name because any genes within them (so far at least 29 have been found for humans) [ 3 ] are inherited just like any autosomal genes.
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Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substrates ) into others ( products ).