Module 9 - Effects of Mutations I

A change in a DNA sequence where one base pair is replaced with another.

A type of point mutation where a purine base (adenine or guanine) is replaced with another purine base, or a pyrimidine base (thymine or cytosine) is replaced with another pyrimidine base.

A type of point mutation where a purine base (adenine or guanine) is replaced with a pyrimidine base (thymine or cytosine), or vice versa.

A mutation where one or more base pairs are added to the DNA sequence.

A mutation where one or more base pairs are removed from the DNA sequence.

A mutation where a sequence of DNA is flipped and reinserted in the opposite orientation.

A point mutation that does not change the amino acid sequence encoded by the gene, due to redundancy in the genetic code.

A point mutation that changes the amino acid sequence encoded by the gene.

A non-synonymous mutation that changes a codon for an amino acid into a stop codon, resulting in a shortened protein.

A mutation that changes a stop codon into a codon for an amino acid, resulting in an extended protein.

A type of mutation caused by insertions or deletions that shift the reading frame of the genetic code, changing all codons downstream from the mutation.

A second mutation that reverses the effect of a previous mutation, restoring the correct amino acid sequence.

Inherited disorders caused by defects in single genes.

A genetic disorder caused by a mutation in the CFTR gene, which is responsible for proper salt and water balance in cells.

The protein encoded by the CFTR gene, responsible for regulating chloride transport across cell membranes.

A change in the DNA sequence that affects the function of the CFTR gene.

A mutation where a glycine at position 508 is replaced with a stop codon, prematurely terminating protein synthesis.

A type of point mutation where the substitution results in a different amino acid being coded for.

A type of treatment for Cystic Fibrosis that utilizes two medications, Ivacaftor and Lumacaftor, to address the underlying CFTR dysfunction.

A combination therapy for Cystic Fibrosis that utilizes two medications, Ivacaftor and Lumacaftor, to address the underlying CFTR dysfunction.

A change in the DNA sequence that affects the function of the CFTR gene.

The biological characteristics of an organism, determined by its genotype and influenced by environmental factors.

The genetic makeup of an organism, represented by the specific alleles it possesses.

A change in the DNA sequence of an organism.

Mutations can either be detrimental, beneficial, or have no impact on an organism's survival or fitness.

Having two copies of each chromosome, one inherited from each parent.

The different versions of a gene that arise due to mutations.

A situation where a mutation in a single gene copy is enough to cause a disease.

A major deletion of a large chunk of DNA from a chromosome.

A condition where an individual has an extra copy of a chromosome.

A condition characterized by the absence of one chromosome in a pair.

A condition where a part of one chromosome is transferred to another chromosome.

An abnormal chromosome found in some types of leukemia, resulting from a translocation between chromosomes 9 and 22.

A variant of the Apolipoprotein A-I gene, specifically a missense mutation at position 173 (R173C), linked to a reduced risk of cardiovascular disease in carriers.

A gene associated with bone density, specifically a missense mutation at position 171 (G171V) in LRP5 is associated with higher bone density and reduced risk of fractures.

A mutation in the melanocortin 1 receptor (MC1R) gene that disrupts pigmentation, resulting in red hair and fair skin. It's also linked to increased sensitivity to pain, especially with inhalational anesthesia.

Individuals who naturally require less sleep than the average person, with no apparent negative health consequences from their shortened sleep duration.

A missense mutation in DEC2, specifically DEC2-P384R, associated with Natural Short Sleep. The mutation causes increased expression of orexin, a wake-promoting peptide.

A family originating from Limone sul Garda, northern Italy, that carries a mutation in the Apolipoprotein A-I gene, resulting in lower cardiovascular disease risk.

A group of individuals from Connecticut carrying a mutation in the LRP5 gene, leading to increased bone density and lower fracture risk.

A pathway crucial for bone development and controlled by the LRP5 gene.

A peptide promoting wakefulness, its expression is often increased in individuals with natural short sleep due to a mutation in DEC2.