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