BIOL239 Lecture Notes - Chromosomal Translocation, Primary Transcript, Intellectual Disability

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pearsardine709

13 Sep 2014

School

University of Waterloo

Department

Biology

Course

BIOL239

Professor

Christine Dupont

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Document Summary

Set 20: chromosomal rearrangements, all are mutations . An heritable change in dna sequence: deletions. Homozygosity for gene deletions is often, but not always, lethal. Gene dosage the number of times a given gene is present in the genome: gene-dosage effect. A deletion of an entire gene(s) or even a segment of the gene results in a single dose of that gene product in an otherwise diploid individual (which normally relies on two doses) Deletion on the short arm of c5 (chromosome five) Heterozygotes have a small head, wide-spaced eyes, round face and cognitive deficiencies: crit-du-chat syndrome. Note the deletion of short arm for chromosome 5. Cri-du-chat cry of a cat in french. It is called this because these things usually make infants cry: heterozygosity for deletions may have phenotypic consequences, duplications. Duplications increase the copy number of a particular chromosomal region. Tandem duplications lie adjacent to each other, either in the same order or in reverse order.

Related Questions

___1. Nationally, the most common cause of Down Syndrome is
a. nondisjunction of Chromosome 21 during meiosis
b. translocation of Chromosome 21 onto another chromosome
c. inversion of a large section of Chromosome 21
d. deletion of the Down Syndrome gene
___2. In humans, sex is determined by
a. The presence or absence of the Y chromosome
b. The ratio of X chromosomes to sets of autosomes
c. The temperature during fetal development
d. Which parent is stronger at the time of conception
___3. A translocation is
a. a chromosomal abnormality in which a piece of one chromosome breaks off and attaches to a different chromosome
b. an abnormality in which the chromosomes are translocated out of the nucleus
c. a condition in which the chromosome has broken in two places and come back together with the middle segment backward
d. an abnormality in which there is an extra copy of one chromosome
___ 4. In snapdragons, a red-flowered plant crossed with a white-flowered plant produces all pink-flowered offspring. But crossing two pink-flowered plants produces red, pink, and white in a 1:2:1 ratio. This is a good example of
a. Incomplete dominance
b. Dominance of the red allele over the white allele
c. Lethal effects of the pink allele
d. Sex-linkage of the flower-color alleles
___ 5. If a person with type AB blood marries a person with Type O blood, what blood types are possible in their children? (Assume this trait is a single-gene trait, not complicated by interaction with other genes).
a. A, B, AB, or O
b. A or B only
c. AB or O only
d. AB only 2
___6. In what phase of meiosis are haploid nuclei first formed? a. Anaphase I b. Metaphase II c. Telophase II d. Metaphase I e. Telophase I
___7. What is the phenotype of a heterozygous tall pea plant? a. tall b. Tt c. TT d. tt e. dominant
___ 8. If genes A and B are far apart on a chromosome, and A and C are close together, which of the following observations is expected?
a. Crossing over will occur more often between A and C than between A and B
b. Crossing over will occur at equal frequencies between A and C, and between A and B
c. Crossing over will occur more often between A and B than between A and C
___9. Sometimes an organismâs genotype for one gene masks the effect of a different gene. This phenomenon is called
a. Dominance
b. Incomplete dominance
c. Co-dominance
d. Epistasis
e. Variable expressivity
___10. The dominant allele of a gene is
a. The one that is expressed most often in a population
b. The one that is expressed most often in any particular cross
c. The one that is expressed in an individual that has two different alleles
d. The one that is most healthy to have, that gives the greatest fitness
___11. In human cells, DNA replication occurs
a. In S phase of interphase
b. In G1 phase of interphase
c. In G2 phase of interphase
d. In prophase of mitosis
e. Whenever the cell needs to read the DNA to make proteins
___ 12. A process in which recipient cells take up genes from DNA molecules floating free in the surrounding medium is called
a. conjugation
b. specialized transduction
c. generalized transduction
d. transformation 3
___ 13. Most calico cats are female. However, a few rare males are observed. What is the genotype of a male calico cat?
a. X BX 0
b. X OY
c. X BY
d. X BYY
e. X BX OY
___ 14. A type of red-green color-blindness is a sex-linked (X-linked) recessive trait in humans. Can a woman have this type of color-blindness?
a. Yes, a woman could be color-blind if her mother and father were both heterozygous.
b. Yes, a woman could be color-blind but only if she has an abnormal number of sex chromosomes.
c. No, women can't show sex-linked traits because they lack a Y chromosome.
d. No, women can't show sex-linked traits because they have two X chromosomes.
e. Yes, a woman could be color-blind if her father was color-blind and her mother was a carrier (heterozygous).

BIOL239 Lecture Notes - Chromosomal Translocation, Primary Transcript, Intellectual Disability

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