HMB265H1 Chapter Notes -Proband, Autosome, Zygosity

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20 Jun 2013

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HMB265H1 Full Course Notes

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Pedigree analysis a scrutiny of mating records. Propositus a member of a family who first comes to the attention of a geneticist; usually, their phenotype is exceptional in some way. Investigator traces the history of the phenotype through the history of the family, then draws a family tree (pedigree) To see single-gene inheritance, the patterns in the pedigree have to be interpreted by mendel"s law of equal segregation. Typical 3:1 and 1:1 ratios are not seen in humans, since we usually have few children. 3:1 and 1:1 ratios might be seen when many similar pedigrees are combined. Autosomal recessive disorders are inherited as recessive alleles, so the unaffected phenotype must be the dominant allele; 2 ways to show autosomal recessive inheritance. The disorder generally appears in the progeny of unaffected parents. The affected progeny include both males and females; this will be simple mendelian inheritance of a gene on an autosome, rather than a gene on a sex chromosome.

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1. Characters that show a continuous range of variation, such as height and eye color, usually are controlled:

a.	by a single gene with two alleles that are codominant.

b.	by many genes with an additive effect.

c.	by epistatic interactions between two genes.

d.	mainly by the environment, with only a small genetic component.

2. In humans, red-green colorblindness is inherited as a sex-linked recessive trait. In order for a woman to be red-green colorblind, which of the following statements must be true.

a.	Her mother must be red-green colorblind.

b.	All of her brothers must be red-green colorblind.

c.	Her father must be red-green colorblind.

d.	All of the above statements must be true if a woman is red-green colorblind.

3. The x-ray crystallography data collected by Rosalind Franklin suggested to Watson and Crick that the:

a.	structure of DNA is a double helix.

b.	two strands of the DNA molecule are joined by hydrogen bonds between the bases.

c.	four bases within DNA pair in a specific way.

d.	two strands of the DNA molecule are joined by covalent bonds between the bases.

4. In the genetic code, _________ one amino acid.

a.	one nucleotide specifies

b.	two nucleotides specify

c.	three nucleotides specify

d.	four nucleotides specify

5. During Meiosis I, a homologous pair of chromosomes may not separate, resulting in daughter cells that have extra chromosomes or are missing chromosomes. This can lead to genetic disorders, including Down Syndrome. This phenomenon is called:

a.	independent assortment.

b.	nondisjunction.

c.	segregation.

d.	crossing over.

6. You are a human geneticist studying the incidence of retinitis pigmentosa in the residents of Tristan de Cunha, a group of small islands in the middle of the southern Atlantic Ocean. The allele for retinitis pigmentosa, which causes a form of blindness, is inherited as an autosomal recessive. You have determined that the frequency of this allele (r) in the population is 0.4 (40%). Using the principles of the Hardy-Weinberg rule, you would estimate the frequency of individuals who are heterozygous for this allele (Rr) in the population to be:

a.	0.16 (16%)

b.	0.24 (24%)

c.	0.36 (36%)

d.	0.48 (48%)

7. Natural selection acts at the level of the:

a.	phenotype.

gene.

c.	population.

d.	nucleotide.

8. You are working with pea plants, trying to recreate the experiments that Mendel performed. You are doing a dihybrid cross with a plant that is heterozygous for both seed shape and seed color, with the genotype RrYy. Which allelic combinations would you expect to find in the gametes produced by this plant?

a.	This plant would produce only RY and ry gametes.

b.	This plant would produce only RrYy gametes.

c.	This plant would produce RY, Ry, rY, and ry gametes.

d.	You cannot determine which gametes this plant can produce without knowing the genotypes of its parents.

9. Biochemist Erwin Chargaff found that in DNA there is a special relationship between the four bases that we now call Chargaff's rule. His observation was that, in an organism's genome the:

a.	percentage of A nucleotides = the percentage of T nucleotides, and the percentage of C nucleotides = the percentage of G nucleotides.

b.	four bases all occur in an equal frequency (25%) within each organism.

c.	percentage of A nucleotides = the percentage of G nucleotides, and the percentage of C nucleotides = the percentage of T nucleotides.

d.	genetic material is composed of proteins, not DNA.

10. During DNA replication:

a.	each strand of the double helix acts as a template for the synthesis of a new strand.

b.	the enzyme DNA polymerase adds nucleotides to the strand being synthesized.

c.	the bases A,C,G and T are required.

d.	All of the above are true of DNA replication.

11. During translation, amino acids are joined by peptide bonds to make polypeptides. The formation of these peptide bonds is catalyzed by:

12. If an allele (R) at a gene with two alleles shows complete dominance, individuals with the genotypes ______ will have the same phenotype.

a.	RR and rr.

RR and Rr

Rr and rr

d.	Each of the three possible genotypes will have a different phenotype.

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HMB265H1 Chapter Notes -Proband, Autosome, Zygosity

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