Gene Mutations
It is the change in a single nucleotide of a gene, including deletion, insertion, and substitution.
What are Gene Mutations
Having an abnormal number of individual chromosomes (e.g., missing one or having an extra).
What is Aneuploidy
Thick mucus builds up in the lungs and digestive tract.
What is Cystic Fibrosis
Male with an extra X chromosome (47, XXY).
What is Klinefelter Syndrome
It does not code for a different amino acid; it does not change the amino acid.
What is Silent Mutation
Having extra complete sets of chromosomes (3n, 4n, etc.)
What is Polyploidy
Caused by a missense mutation in the HBB gene.
What is Sickle Cell Disease
Short height, infertility, delayed puberty, and a webbed neck.
What is Turner Syndrome
It codes for a different amino acid, therefore alters the resulting protein structure, stability, and folding.
A segment of a chromosome is accidentally copied and repeated, leaving the cell with extra copies of certain genes
What is Duplication
A missense mutation changes one amino acid in hemoglobin.
What is Sickle Cell Disease
Caused by three copies of chromosome 21
What is Down Syndrome
It shifts the “reading frame” of the entire gene downstream, therefore drastically changing the resulting protein.
Occur when an organism gains or loses whole chromosomes, or entire sets of chromosomes, caused by nondisjunction during cell division.
What are Numerical Mutations
Caused by mutations in the Factor VIII or IX genes.
What is Hemophilia
Caused by three copies of chromosome 13
What is Patau Syndrome
Causes the cell to stop building the protein too soon, resulting in a shortened, usually non-functional protein.
What is Nonsense Mutation
Occur when segments and arrangements of a chromosome break, rearrange, or join incorrectly.
What are Structural Mutations
Caused by expansion of repeated CAG sequences in the HTT gene.
What is Huntington Disease
High-pitched "cat-like" cry during infancy.
What is Cri-du-chat Syndrome