Q3 quarterly review set

What molecule contains the instructions to make proteins?

DNA

What is the process where RNA polymerase reads a gene to create mRNA?

Transcription

What is the process where a ribosome reads mRNA and brings in amino acids?

Translation

What do amino acids link together to form?

A polypeptide

What is the final functional product of a polypeptide chain?

A protein

What is the biological definition of albinism?

A rare genetic disorder that affects the production of melanin, the pigment responsible for skin, hair, and eye color.

What are the two most common types of albinism?

Oculocutaneous albinism (affects hair, skin, and eyes) and Ocular albinism (affects mostly the eyes).

Why do individuals with albinism often have serious vision difficulties?

Lack of melanin during fetal development causes abnormal development of the macular hypoplasia and abnormal nerve connections between the brain and eyes.

Why are individuals with albinism at an increased risk for skin and eye cancers?

Lack of melanin pigmentation causes extreme sensitivity to light, requiring extensive protection from sun exposure.

What is a point mutation (substitution)?

A mutation where one single base in the DNA sequence is replaced by another.

What is a frameshift mutation?

A mutation caused by the insertion or deletion of nucleotides, which shifts the reading frame of codons.

How is the function of a protein related to its structure?

The specific sequence of amino acids determines the protein's shape, and the shape determines its biological function.

What are the characteristics of an autosomal dominant inheritance pattern?

The trait appears in every generation, affects both males and females, and an affected person must have at least one affected parent.

What are the characteristics of an autosomal recessive inheritance pattern?

The trait can skip generations, affects both males and females, and an affected person can have two unaffected parents (who are carriers).

What are the characteristics of an X-linked recessive inheritance pattern?

It affects mostly males, can skip generations, and affected mothers will have 100% affected sons.

What is the purpose of a Punnett square?

To predict all possible allele combinations of offspring produced by two parents and determine the probability of specific genotypes and phenotypes.

In a Punnett square, what percentage probability does each individual square represent?

25%

What is the genotype for an individual expressing an autosomal recessive trait?

Homozygous recessive (aa).

What is the genotype for an individual expressing an autosomal dominant trait?

Either homozygous dominant (AA) or heterozygous (Aa).

What is the difference between a missense and a nonsense mutation?

A missense mutation changes one amino acid to another, while a nonsense mutation creates a premature stop codon.

What is a silent mutation?

A mutation that changes a DNA base but does not change the resulting amino acid sequence.

What does the term 'macular hypoplasia' refer to in the context of albinism?

The abnormal development of the fovea in the retina, which contributes to vision impairment.

If two parents are carriers (Aa) for an autosomal recessive disorder, what is the probability their child will have the disorder?

25%.