Genetic Diseases

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The traditional classicfication of diseases was based on 3 categories:

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1. diseases that are GENETICALLY determined. 2. disaeses that are ENTIRELY ENVIRONMENTALLY determined. 3. BOTH genetic & enviornment

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Hereditary def =

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1. Derived from one's PARENTs.
2. Transmitted in the gametes through the generations.
3. These are always genetic diseases!

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Familial def =

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1. Passed on through the generations of a family.
2. These may appear sporadically in the generations.

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Congenital def =

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1. Any abnormality that is present at birth.
2. May or may not be genetic

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What are the 4 categories of Genetic Disorders?

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1. Mendelian Disorders
2. Disorders with Multifactorial Inheritance
3. Cytogenietic Disorders (aka Chromosomal disorders)
4. Single-gene Disorders with Atypical Patterns of Inheritance

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Mendelian Disorders are disorders that =

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are related to mutation of a SINGLE GENE of LARGE EFFECT = heritable.

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Disorders with MULTIFACTORIAL INHERITANCE =

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disorders where PHENOTYPIC EXPRESSION of disease is related to the COMBINED effects of ENVIRONMENTAL influences and MULTIPLE gene mutations of SMALL EFFECT = POLYGENIC INHERITANCE.

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Cytogenic Disorders are also known as ? And the def is?

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Aka Chromosomal Disorders. They are diseases arising from CHROMOSOMAL aberrations that are identifiable on a KARYOTYPE = STRUCTURAL & NUMERICAL.

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Single-gene Disorders with Atypical Patterns Inheritance =

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1. Triplet repeat mutations
2. Mutations in mitochondrial genes
3. Genomic imprinting.

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What are the 7 patterns of inheritance of Mendelian Disorders?

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1. Autosomal Disorders
2. X-Linked Disorders
3. Dominant Disorders
4. Recessive Disorders
5. Codominance
6. Pleiotropy
7. Genetic Heterogeneity

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Autosomal disorders are =

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diases caused by mutation of agene located on one of the 44 autosomes (not-sex chromosomes)

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X-linked disorders =

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diseases caused by mutation of a gene located on the X chromosome.

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What are the disorders due to mutations on the Y-chromosome called?

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There are NO known disorders due to mutation on the Y chromosome

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Dominant disorders are?

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diseases that are expressed in the PHENOTYPE if the mutation is present in the genotype i.e., both heterozygotes & homozygotes express the disease

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Recessive disorders are?

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1. Diseases that are expressed in the PHENOTYPE only if BOTH gene loci of the chromosome pair have the pathologic mutation = homozygous
2. Heterozyges for the gene mutation are clinically normal, but are disease carriers

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Codominance is =

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Both alleles of the gene pair are fully expressed in the heterozygote

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What pattern of inheritance of mendelian disorder is = a single-gene mutation may cause many phenotypic effects

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Pleiotrophy.

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A single-gene mutation at any of several different gene pairs may cause the same phenotypic disease is known as which pattern of ineritance of mendelian disorders?

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Genetic Heterogeneity

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both alleles of the gene pair are fully expressed in the heterozygote = which pattern of inheritance of mendelian disorders?

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Codominance

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Genotype = the actual genetic code present at a gene locus. T/F

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T

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Phenotype = the observable physical characteristic seen expressed by the genetic code. T/F?

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T

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T/F: a gene is a functional unit which occurs at a unique locus on a chromosome & determines a specific hereditary trait.

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T