Genetic Mutations and Disorders - Vocabulary

Vocabulary flashcards covering key terms from the lecture notes on genetic mutations and genetic disorders.

Genetic mutations

Changes in the structure of genes that affect the inheritable nucleotide sequence.

Chromosomal aberrations

Changes in chromosome number or structure; caused by replication errors, mutagens, infections.

Aneuploidy

One extra or one missing chromosome; often due to nondisjunction during meiosis.

Euploidy

Change in the number of the entire chromosome set.

Deletion (chromosome)

Loss of a chromosome segment.

Duplication (chromosome)

Extra copy of a chromosome segment.

Inversion (chromosome)

Rotation of a chromosome segment.

Translocation (chromosome)

Transfer of a chromosome part to a nonhomologous chromosome.

Substitution (nucleotide)

One nucleotide is replaced by another in the DNA sequence.

Insertion (nucleotide)

Addition of one or more bases; frameshift if not in multiples of 3.

Deletion (nucleotide)

Removal of one or more bases; frameshift if not in multiples of 3.

Frameshift mutation

Mutation where the reading frame is shifted due to insertion/deletion not in multiples of 3.

Transition

Substitution where a base is swapped with the same type (purine↔purine or pyrimidine↔pyrimidine).

Transversion

Substitution where a base is swapped to the other type (purine↔pyrimidine).

Autosomal mutation

Mutation that occurs in autosomes (the 22 pairs of non-sex chromosomes).

Sex chromosome mutation

Mutation that occurs in the X or Y chromosome (the 23rd pair).

Tay-Sachs disease

Autosomal recessive; point mutation in HEXA gene on chromosome 15; no cure; fatal by age 4–5.

Sickle cell anemia

Autosomal recessive; crescent-shaped red blood cells; pain, weakness, and reduced oxygen; inherited.

Phenylketonuria (PKU)

Autosomal recessive; inability to break down phenylalanine; brain damage if untreated; managed by diet.

Hemophilia

X-linked recessive; blood fails to clot properly due to missing clotting factor (F8); more common in males; females carriers.

Cystic fibrosis (CFTR ΔF508 deletion)

Autosomal recessive; thick mucus; CFTR gene deletion of phenylalanine on chromosome 7.

Cri-du-chat syndrome

Deletion on the short arm of chromosome 5; high-pitched catlike cry; low birth weight; developmental delay.

Duchenne muscular dystrophy (DMD)

X-linked recessive; frameshift mutation in DMD gene on X chromosome; progressive muscle weakness.

Biotechnology

Field involving genetic engineering: creating organisms with desired traits through DNA manipulation.

Recombinant DNA

DNA manipulation: extracting, cutting, identifying trait sequences, copying, and combining fragments to form hybrids.

Genetically Modified Foods (GMO)

Foods engineered for traits like pest resistance, drought tolerance, or improved taste/texture/size/color.

Biopharming

Producing pharmaceutical compounds in genetically modified plants or animals.

Gene therapy

Identification and repair of mutated genes by introducing healthy copies into cells.

Biochips

Tiny devices integrating biological components with electronic circuits to analyze biological information (e.g., DNA analysis, disease detection).

Bioremediation

Use of natural and recombinant microorganisms to break down toxic substances in the environment.