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43 Terms

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  1. Parents genotypes: Phil & Maggie must be Ee (heterozygous).

Probability second child has attached earlobes (recessive) = 1/4 (25%).

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2, AaBb × AaBb →

(3/4) × (1/4) = 3/16.

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  1. Test cross (smooth = dominant) × rr (wrinkled)

if offspring show ~1:1 smooth:wrinkled, the unknown is Rr (heterozygous).

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4.Law of Segregation

alleles separate during gamete formation so each gamete gets one allele.

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  1. If F1 all show one phenotype (e.g., purple only), that indicates the trait is

dominant

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  1. X-linked recessive rule:

the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. In X-linked recessive inheritance, males are more likely to express the trait since they have only one X chromosome.

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  1. B dominant / b recessive

dominant phenotype = BB or Bb; recessive phenotype = bb.

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  1. Incomplete dominance

occurs when the heterozygote shows an intermediate phenotype between the two homozygotes.

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  1. Homozygous

two identical alleles (AA or aa);

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  1. Heterozygous

two different alleles (Aa)

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  1. sex-linked (X-linked) inheritance.

Pattern where all females have one phenotype and all males the other

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  1. In that fruit-fly cross the P female is heterozygous (carrier) and

P male is hemizygous (single X; either mutant or wild-type depending on the cross).

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  1. Parents A (AO) × B (BO) can produce a child with

type O (if both parents are heterozygous AO and BO → child OO).

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  1. What determines how often linked genes recombine

physical distance (map distance) on the chromosome; closer genes recombine less often.

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  1. Chargaff’s rules: in DNA,

[A] = [T] and [G] = [C].

the amount of adenine (A) should be equal to the amount of thymine (T), and the amount of guanine (G) should be equal to the amount of cytosine (C)

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  1. Primary information source for determining DNA structure

X-ray diffraction

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  1. Semiconservative replication

each daughter DNA has one parental strand + one newly synthesized strand (Meselson–Stahl).

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  1. Primase (RNA primer) is required

to provide a free 3′-OH (an RNA primer) so DNA polymerase can begin synthesis.

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  1. Elongation:

DNA polymerase adds nucleotides to the 3′ end, synthesizing in the 5′→3′ direction; leading strand is continuous, lagging strand as Okazaki fragments.

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  1. Protein that acts during initiation:

helicase — it unwinds the double helix.

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  1. Role of helicase:

unwind (separate) the two DNA strands at the replication fork.

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  1. End-replication problem:

linear chromosomes shorten because DNA polymerase cannot fully replicate the 3′ ends, causing telomere shortening unless telomerase extends them.

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  1. Major chromosomal mutation types:

deletion, duplication, inversion, translocation

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  1. PCR is a laboratory technique used to

amplify (make many copies of) a specific DNA sequence.

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  1. In PCR, heat (high temperature) separates DNA strands (denaturation);

in cellular replication, helicase separates strands.

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  1. Point mutation:

a change in a single nucleotide base (usually a substitution)

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  1. Transcription

    Translation

DNA → RNA (making an RNA copy).

mRNA → polypeptide (protein synthesis).

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  1. tRNA during translation:

brings amino acids to the ribosome.

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  1. In eukaryotes: introns

long stretch of noncoding DNA found between exons (or coding regions) in a gene.

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  1. Start codon AUG signals the ribosome to

initiate translation (and codes for methionine).

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  1. RNA polymerase (specifically RNA polymerase II in eukaryotes) is responsible for

transcribing DNA into mRNA.

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  1. Transcription occurs in the nucleus (eukaryotes); translation occurs in the

cytoplasm (outside the nucleus)

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  1. Directly before translation comes

transcription of mRNA from DNA.

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  1. The first amino acid is always methionine because

AUG is the start codon and codes for methionine.

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  1. Involved in translation

the ribosome (with rRNA and proteins), mRNA, and tRNAs (all are required).

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  1. Nucleic acids (DNA/RNA)

are synthesized 5′→3′ as the template is read 3′→5′.
Polypeptides are synthesized N-terminus → C-terminus while mRNA is read 5′→3′. and are critical for protein synthesis.

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  1. Frameshift mutations

are most likely caused by insertions or deletions not in multiples of three nucleotides.

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  1. A tRNA carrying an amino acid is called

  • Aminoacyl-tRNA (charged tRNA)

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  1. DNA replication is generally more accurate than transcription because

DNA polymerases have proofreading (3′→5′ exonuclease) activity and repair mechanisms

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39.Release factors function to recognize stop codons and terminate translation

promoting polypeptide release.

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40. A mutation changes the codon [codon withheld] to change to {codon withheld]. This is an example of a:

  • codon → different amino acid = missense.

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A mutation in DNA that changes a codon from UAU (tyrosine) to UAA (stop) is an example of:

nonsense mutation

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Correct order of gene expressions

DNA→ transcription → translation → protein