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22 Cards in this Set

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The traditional classicfication of diseases was based on 3 categories:
1. diseases that are GENETICALLY determined. 2. disaeses that are ENTIRELY ENVIRONMENTALLY determined. 3. BOTH genetic & enviornment
Hereditary def =
1. Derived from one's PARENTs.
2. Transmitted in the gametes through the generations.
3. These are always genetic diseases!
Familial def =
1. Passed on through the generations of a family.
2. These may appear sporadically in the generations.
Congenital def =
1. Any abnormality that is present at birth.
2. May or may not be genetic
What are the 4 categories of Genetic Disorders?
1. Mendelian Disorders
2. Disorders with Multifactorial Inheritance
3. Cytogenietic Disorders (aka Chromosomal disorders)
4. Single-gene Disorders with Atypical Patterns of Inheritance
Mendelian Disorders are disorders that =
are related to mutation of a SINGLE GENE of LARGE EFFECT = heritable.
disorders where PHENOTYPIC EXPRESSION of disease is related to the COMBINED effects of ENVIRONMENTAL influences and MULTIPLE gene mutations of SMALL EFFECT = POLYGENIC INHERITANCE.
Cytogenic Disorders are also known as ? And the def is?
Aka Chromosomal Disorders. They are diseases arising from CHROMOSOMAL aberrations that are identifiable on a KARYOTYPE = STRUCTURAL & NUMERICAL.
Single-gene Disorders with Atypical Patterns Inheritance =
1. Triplet repeat mutations
2. Mutations in mitochondrial genes
3. Genomic imprinting.
What are the 7 patterns of inheritance of Mendelian Disorders?
1. Autosomal Disorders
2. X-Linked Disorders
3. Dominant Disorders
4. Recessive Disorders
5. Codominance
6. Pleiotropy
7. Genetic Heterogeneity
Autosomal disorders are =
diases caused by mutation of agene located on one of the 44 autosomes (not-sex chromosomes)
X-linked disorders =
diseases caused by mutation of a gene located on the X chromosome.
What are the disorders due to mutations on the Y-chromosome called?
There are NO known disorders due to mutation on the Y chromosome
Dominant disorders are?
diseases that are expressed in the PHENOTYPE if the mutation is present in the genotype i.e., both heterozygotes & homozygotes express the disease
Recessive disorders are?
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
Codominance is =
Both alleles of the gene pair are fully expressed in the heterozygote
What pattern of inheritance of mendelian disorder is = a single-gene mutation may cause many phenotypic effects
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?
Genetic Heterogeneity
both alleles of the gene pair are fully expressed in the heterozygote = which pattern of inheritance of mendelian disorders?
Genotype = the actual genetic code present at a gene locus. T/F
Phenotype = the observable physical characteristic seen expressed by the genetic code. T/F?
T/F: a gene is a functional unit which occurs at a unique locus on a chromosome & determines a specific hereditary trait.