Alleles
one of two or more alternative versions or forms of a gene that arise from mutations, occupying the same specific location on a chromosome
Aneuploidy
the condition of having an abnormal number of chromosomes in a cell
autosomes
any chromosome that is not a sex chromosome
barr body
Barr body is a condensed, inactivated X chromosome found in the nucleus of somatic cells in female mammals, appearing as a dark spot, which balances the expression of X-linked genes between sexes by effectively reducing one X chromosome to one single X
chiasma
a point at which paired chromosomes remain in contact during the first metaphase of meiosis, and at which crossing over and exchange of genetic material occur between the strands.
codominance
a genetic pattern where both alleles from each parent are fully and equally expressed in the offspring’s phenotype, resulting in a trait that shows both parental characteristics distinctly, not blended
complete dominance
where one allele (the dominant) completely masks the effect of another allele (the recessive) in a heterozygous individual, resulting in the dominant phenotype being fully expressed, as if the recessive allele weren’t even there
crossing over
process during meiosis where homologous chromosomes exchange segments of their DNA, creating new combinations of genes on the chromatids, which significantly increases genetic diversity in gametes and ultimately in offspring, driving evolution and adaptation
cystic fibrosis
an inherited genetic disorder caused by a mutation in the CFTR gene, leading to the production of abnormally thick, sticky mucus that clogs airways and ducts in organs like the pancreas, lungs, and liver, causing chronic infections, breathing difficulties, digestive problems, and organ damage over time
Depletion
the reduction, loss, or emptying of essential substances like body fluids, nutrients, stored materials, or cells from an organism or ecosystem, often happening faster than they can be replenished, leading to debilitation or resource scarcity
diploid cell
a cell containing two complete sets of chromosomes, one inherited from each parent, forming homologous pairs (2n)
down syndrome
a chromosomal condition caused by having an extra full or partial copy of chromosome 21, leading to extra genetic material that alters development, causing characteristic physical features, intellectual disabilities, and increased health risks, most commonly due to Trisomy 21 resulting from a cell division error called nondisjunction
duchenne muscular dystrophy
a severe, genetic disorder causing progressive muscle degeneration, primarily in boys, due to mutations in the DMD gene, leading to the absence of the crucial dystrophin protein that stabilizes muscle fibers, resulting in rapid weakness, loss of mobility, and eventual reliance on wheelchairs and ventilation, with symptoms starting in early childhood
Duplication
a genetic mutation where a segment of DNA, from a single gene to a large chromosomal region, gets copied, creating extra genetic material in the genome
Gametes
specialized reproductive cells that carry half the genetic material needed to form a new organism
Genome
the complete set of an organism’s genetic material, containing all the instructions needed to build, function, and reproduce that organism, encompassing genes and non-coding sequences organized into chromosomes
haploid cell
contains a single set of unpaired chromosomes, meaning it has half the number of chromosomes as a normal diploid body cell
Hemophilia
a genetic bleeding disorder where the blood clots too slowly due to a lack or deficiency of essential clotting factor proteins
homologous chromosomes
pairs of chromosomes, one from each parent, that are similar in size, shape, and gene sequence, carrying the same genes at the same locations but potentially different versions of those genes
Huntington’s disease
a fatal, inherited neurological disorder caused by a mutated gene leading to nerve cell breakdown and death in the brain, resulting in uncontrolled movements, cognitive decline, and psychiatric issues, characterized by a CAG repeat expansion that creates a toxic, abnormal huntingtin protein, damaging neurons over time
Hybridization
the process of combining genetic material from two different, distinct individuals through reproduction to create offspring
incomplete dominance
a pattern where neither allele for a trait is fully dominant, resulting in a heterozygous phenotype that is an intermediate blend of the two homozygous traits
Inversion
a chromosomal mutation where a chromosome segment breaks off, flips 180 degrees, and reattaches, reversing its gene order
Karyotype
an individual’s complete set of chromosomes, organized by size, shape, and number, often presented as a visual chart to identify genetic abnormalities like extra or missing chromosomes, which helps diagnose genetic disorders or cancers