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Flashcards covering genetic disorders, the genetics of psychological differences, and modern genetics.
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Single gene disorders
Genetic conditions caused by a mutation in a single gene.
Chromosomal disorders
Genetic conditions caused by abnormalities in chromosome structure or number.
Non-Disjunction
Failure of chromosome pairs to separate properly during cell division, leading to an abnormal number of chromosomes in daughter cells.
Translocation
The process by which a piece of a chromosome breaks off and attaches to another chromosome.
Incomplete dominance
A form of inheritance in which the effects of alleles in a heterozygous individual are only partial expressed.
Genomic Imprinting
A process by which genes are expressed in a parent-specific manner.
Huntington’s Disease
A neurodegenerative condition caused by a mutation in the HTT gene, leading to impaired movement and cognitive ability.
de la Chapelle syndrome
A condition in individuals with female chromosomes (XX) who develop a male phenotype due to translocation of the SRY gene.
Tay-Sachs disease
A genetic disorder caused by a mutation of the HEXA gene, leading to destruction of nerve cells in the CNS.
Angelman Syndrome
A genetic disorder caused by a deletion in chromosome 15, leading to mental retardation, sexual development deficiencies, and seizures due to a loss of maternally inherited genes.
Prader-Willi Syndrome
A genetic disorder caused by a deletion in chromosome 15, leading to excessive appetite, restricted growth, and learning difficulties due to a loss of paternally inherited genes.
Polygenetic
Involving more than one gene in the expression of a trait.
Schizophrenia
A mental health condition with symptoms such as hallucinations and delusions, implicated with chromosomal pairs 21 and 23, and the DISC-1 gene, and often with environmental influences.
Autism
A developmental disability associated with social communication and interaction deficits, and repetitive behaviors, involving multiple genetic loci.
Alzheimer’s Disease
A progressive condition affecting multiple brain functions, mainly memory, associated with the APOE-e4 gene.
Minnesota Study of Twins Reared Apart
A study showing that monozygotic twins raised apart remained very similar in terms of cognitive ability, personality, temperament and leisure time interest.
Human Genome Project
An international collaboration aimed to map the 3 billion nucleotide bases of the human chromosome to link genome variations to disease and develop treatments.
Epigenetics
The study of mechanisms of inheritance that focus on phenotypic changes that do not alter DNA, but regulate gene expression.
Eugenics
A set of beliefs and practices aimed to improve the genetic quality of a human population, often through planned breeding.