Genetics and Inheritance Flashcards
Non disjunction
Occurs when chromosomes fail to separate properly during meiosis, resulting in gametes with an abnormal number of chromosomes (either too many or too few). Can lead to conditions such as down syndrome and turner syndrome.
Random assortment
During meiosis chromosomes are randomly distributed into daughter cells. Each gamete receives a random mix of maternal and paternal chromosomes. Leading to numerous potential genetic combinations in the offspring.
Random fertilization
Fertilisation involves the union of a sperm and an egg, each carrying a unique set of chromosomes. Which sperm fertilises which egg is a random event. Each gamete has different genetic material due to meiosis, creasing genetic diversity in the population.
Mutations
Permanent changes in the DNA sequence that can occur spontaneously or due to environmental factors (e.g., radiation, chemicals). They can affect a single gene, a segment of a chromosome, or entire chromosomes. Introduces new alleles into a population, creating new genetic traits that may be advantageous, neutral, or disadvantageous.
ABO Blood groups inheritance pattern
Autosomal codominant
Red green colour blindness inheritance pattern
X-linked recessive
Haemophilia inheritance pattern
X-linked recessive
Huntington’s disease inheritance pattern
Autosomal dominant
- Phenylketonuria (PKU) inheritance pattern
Autosomal recessive
Epigenetics
The study of changes in gene expression or cellular phenotype that do not involve alterations to the underlying DNA sequence. Instead, these changes are caused by chemical modifications to the DNA molecule or associated proteins, which can turn genes on or off or adjust their activity levels.