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20 Cards in this Set

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Mendelian genetics defined
Describes a trait associated to a single gene
Define Single Gene Disorder
Disorder due to a mutation in one or a pair of alleles in a single gene locus
Multifactorial Disorders defined
Disorder resulting from the actions of many genes and the environment
Chromosomal Disorders defined
Disorder resulting from the loss or duplication of a chromosome
Types of single gene disorder
Mendelian or mitochondrial
What disorder has the highest frequency seen over the entire life span of individuals?
Common multifactorial disorder
Define gene
Unit of heredity
Define locus
Position of gene on a chromosome
Define allele
One member of a pair of genes that occupy a specific position on a specific chromosome.
Define polymorphism
Multiple alleles of a gene in a given population, usually resulting in multiple phenotypes. (e.g. - CF)
Define hemizygous
Describes a diploid individual with only one allele of a gene or chromosome segment rather than two (e.g. - males with only one X)
Define compound heterozygote
An organism that has two different, harmful, mutant alleles at the same loci.
Define proband
a patient who is the initial member of a family to come under study.
Define consultand
The individual (not necessarily affected) who presents for genetic counseling and through whom a family with an inherited disorder comes to medical attention
Hurler's Syndrome is caused by what?
Deficiency of alpha L iduronidase.
Hurler's Syndrome leads to an accumulation of what?
Mucopolysaccharides dermatan and heparan
Hurler's syndrome is an example of what type of genetic effect?
Pleiotropy
Cystic Fibrosis is an example of what type of genetic effect?
Polymorphism
Define haploinsufficiency
Result when there is a mutation on one allele and the contribution of the other allele is insufficient to prevent the disease.
Define dominant negative
A disease causing allele which disrupts the function of a normal allele IN THE SAME CELL