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Flashcards covering key concepts related to genes, DNA, inheritance patterns, and genetic disorders.
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Gene
The basic physical and functional unit of heredity; a length of DNA.
DNA
Deoxyribonucleic acid, a molecule that carries genetic information.
Allele
Versions of the same gene, inherited from each parent.
Genotype
An organism’s complete set of DNA.
Phenotype
The observable characteristics of an organism.
Gamete
Reproductive (sex) cells, such as ova and sperm.
Autosomal dominant inheritance
A pattern where one copy of the gene is sufficient to cause a condition.
Autosomal recessive inheritance
A pattern where two copies of the gene are required to cause a condition.
X-linked dominant inheritance
A pattern where one copy of the gene is enough to cause the condition.
X-linked recessive inheritance
A pattern where one copy of the gene causes the condition in males but not necessarily in females.
Aneuploidy
A chromosome disorder where there are too many or too few chromosomes.
Trisomy
A condition where there is an extra copy of a chromosome.
Monosomy
A condition where one chromosome is missing.
Cystic fibrosis
A genetic disorder caused by mutations in the CFTR gene affecting mucus production.
Genome Wide Association Studies (GWAS)
Research methods used to find the genetic basis of traits by looking for variations in the genome.
SNP (Single Nucleotide Polymorphism)
A substitution of a single nucleotide at a specific position in the genome, a source of natural variation.
Epigenetics
Modifications to DNA that do not change the DNA sequence but can affect gene activity.
Methylation
The addition of a methyl group to DNA, affecting gene expression.
Heritability
The proportion of variation in a phenotypic trait that is due to genetics.
Pangenesis
An ancient hypothesis about inheritance occurring via particles produced by all parts of the body.
Crossing over
A process during meiosis where genes are shuffled between homologous chromosomes.