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Quiz Medical Genetics

Quiz Medical Genetics

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Published by MedShare
Quiz Medical Genetics
Quiz Medical Genetics

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Published by: MedShare on Apr 15, 2009
Copyright:Attribution Non-commercial


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Medical Genetics 14Mar2009DO NOT DISTRIBUTE - 1 -
1 – Genetics Primer
1) Which of the following is a variant form of a gene, which has a different DNAsequence and therefore produces a different product?a) Gene b) Allelec) Locusd) Genotypee) Phenotype2) Which of the following is a continuous DNA molecule with associated proteins thatcarries genetic information in cells?a) Genome b) Chromosomec) Mitosisd) Meiosise) Locus3) Which of the following means having only one copy of a gene, such as X-linked genesin XY males?a) Diploid b) Haploidc) Homozygousd) Heterozygouse) Hemizygous4) Polymorphism describes an allele of a gene that is present in greater than what percentage of a population, and has no easily discerned effect on phenotype of theorganism?a) 99% b) 75%c) 50%d) 25%e) 1%5) How many autosomes exist for humans?a) 1 b) 22c) 23d) 44e) 466) Sister chromatids attach to the centromere during which phase of mitosis?a) Prophase b) Metaphasec) Anaphased) Telophasee) None of the above7) What chromosome is the
-globin chain of hemoglobin (Hb) on?a) 1 b) 11c) 13
Medical Genetics 14Mar2009DO NOT DISTRIBUTE - 2 -d) 21e) 238) Which of the following is true for carriers of sickle cell anemia?a) Have sickle hemoglobin (HbS) but no anemia b) Have normal hemoglobin (HbA) but no anemiac) Have normal hemoglobin (HbA) and sickle hemoglobin (HbS) but no anemiad) Have sickle hemoglobin (HbS) and have anemiae) Have normal hemoglobin (HbA) and have anemiaf) Have normal hemoglobin (HbA), sickle hemoglobin (HbS) and have anemia9) Most photographs of chromosomes are taken in what phase, which contains twice asmuch DNA as do chromosomes in the majority of the cell cycle?a) Prophase b) Metaphasec) Anaphased) Telophasee) None of the above
Match the following descriptions with the chromosomal term:
10) Centromere is near one end; short arms (p) are very small a) Metacentric11) Centromere is offset from center; arms are of different lengths b) Submetacentric12) Centromere is near the center; arms are of nearly equal length c) Acrocentric13) If one chromosome had two particular alleles at two different loci (A and B) andanother had different alleles at the same loci (a and b), which of the following are possible with crossing over (which is more likely with increased gene distance)?a) A and B or a and b b) A and a or B and bc) A and b or B and ad) None of the above14) Up to what percentage of all pregnancies result in the birth of a child with asignificant genetic or birth defect?a) 9% b) 7%c) 5%d) 3%e) 1%15) What is the recurrence risk for an autosomal dominant disorder?a) 0% b) 25%c) 50%d) 75%e) 100%
2 –Introduction To DNA Technology
1.1) Which of the following advances in DNA technology has made it possible to produce insulin and human growth factor?a) Ability to cut, modify, reassemble, and analyze DNA
Medical Genetics 14Mar2009DO NOT DISTRIBUTE - 3 - b) Ability to select, characterize, mutate in a pre-determined manner, and evensynthesize individual genesc) Ability to clone and express individual genes to produce the proteins theyencode in large amountsd) Ability to determine and locate the gene mutations responsible for geneticdiseasese) Ability to diagnosis sufferers and carriers of genetic diseasesf) Ability to plan future therapies that involve manipulation or replacement of genes1.2) Which of the following allows a segment of DNA to be amplified from down to onecell into millions of copies in a few hours?a) DNA purification and enzymes b) Reverse transcription of RNAc) Exploitation of base-pairing specificity in hybridization techniquesd) The development and manipulation of vectors and vectored host cellse) The development of the polymerase chain reaction2.1) Which of the following is most likely a restriction site sequence?a) 5’ GAATTC, 3’ CTTAAG b) 5’ GAATTC, 3’ CUUAAGc) 5’ GATCATGCAT, 3’ CTAGTACGTAd) 5’ GATCATGCAT, 3’ CUAGACGUAe) 5’ CUAGACGUA, 3’ GATCATGCAT2.2) Restriction endonucleases (restriction enzymes) are ____ enzymes that cut(hydrolyze) ____ into smaller fragments.a) Viral; DNA b) Viral; RNAc) Bacterial; DNAd) Bacterial; RNA2.3) Restrictions enzymes that create staggered cuts with a special affinity (if reunited)leave ____ ends, where the ends are ____ stranded.a) Blunt; Single b) Blunt; Doublec) Sticky; Singled) Sticky; Double2.4) A linker is a short synthetic piece of ____ that can attach to make ____ ends become ____.a) RNA; Sticky; Blunt b) RNA; Blunt; Stickyc) DNA; Sticky; Bluntd) DNA; Blunt; Sticky2.5) Which of the following synthesizes a DNA strand that is complementary to an RNAstrand?a) DNA ligase b) DNA polymerasec) Reverse transcriptased) Restriction endonuclease

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