Gene Mapping

Human gene mapping.

Gene Mapping Techniques

• Define genetic linkage and recombinant frequency • State how genetic distance may be estimated • State how restriction enzymes can be used for isolating genes • Define Restriction Fragment Length Polymorphisms (RFPLs) • Identify the main applications of RFLPs in gene mapping and carrier detection • State the principles used in identifying a specific gene in the genome by hybridisation with a ...

Hypospadias: Gene Mapping and Candidate Gene Studies

Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the urethral folds, abnormal opening of urethra and different degrees of curvature of the penis. In Sweden, the incidence of hypospadias is 1.14 per 300 male live-births according to the annual Swedish Malformation Registry. Hypospadias is considered to be a complex genetic disorder caused by the inte...

Gene mapping and medical genetics

Human chromosome 8 is perhaps best known for its involvement in Burkitt's lymphoma and as the location of the tissue plasminogen activator gene, PLAT, which has been genetically engineered to provide a natural fibrinolytic product for emergency use in cardiac disease. Since chromosome 8 represents about 5% of the human genome, we may expect it to carry about 5% of human gene loci. This would co...

Semiparametric and Nonparametric Gene Mapping

We review gene mapping, or inference for quantitative trait loci, in the context of recent research in semi-parametric and non-parametric inference for mixture models. Gene mapping studies the relationship between a phenotypic trait and inherited genotype. Semi-parametric gene mapping using the exponential tilt covers most standard exponential families and improves estimation of genetic effects...