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Fundamentals of Human Genetics

by: Mrs. Willis Mante

Fundamentals of Human Genetics MCDB 1041

Mrs. Willis Mante

GPA 3.6


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This 19 page Study Guide was uploaded by Mrs. Willis Mante on Thursday October 29, 2015. The Study Guide belongs to MCDB 1041 at University of Colorado at Boulder taught by Staff in Fall. Since its upload, it has received 23 views. For similar materials see /class/231846/mcdb-1041-university-of-colorado-at-boulder in Molecular, Cellular And Developmental Biology at University of Colorado at Boulder.

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Date Created: 10/29/15
MCDB 1041 Exam 1 Fall 2008 Format Review Questions and Terms An excellent way to review is to go back over clicker questions homework and activitiesthose are the kinds of questions I ll be asking In general I am less interested in memorization and more interested in application That said in order to understand genetics there are certain things you just have to knowi de nitions of terms chromosomal numbers rules of inheritance how to calculate probabilities etc I won t ask for de nitions and I won t ask you to regurgitate other facts I will require that you understand the concepts and definitions so that you can apply them to answering questions See the end of the sheet for a list of terms you should know The format of the exam will be as follows Multiple choice about 12 the test Some short answer questions like descriptions of how a process works Longer questions including such things as interpreting pedigrees and working genetic problems crosses linkage pedigrees etc Review Sheet 1 Be able to analyze phenotypic data and deduce patterns of from family histories a Draw a pedigree based on information in a story problem b Distinguish between dominant recessive autosomal Xlinked and mitochondrial modes of inheritance c Calculate the probability that an individual in a pedigree has a particular genotype d Be able to figure out which people should be carriers if they are not marked 2 Describe the mechanisms by which an organism s genome is passed on to the next generation a Define somatic and germline cells and list similarities and differences between them b Explain why germline mutations can be passed onto the next generation whereas somatic mutations cannot c Describe using diagrams the sequence of events involving DNA in meiosis from chromosome duplication through chromosome segregationiin particular be able to describe or draw how meiosis I and II are different d Explain how independent assortment of alleles during meiosis can lead to new combinations of alleles of unlinked genes e Be able to describe the cell cycle interphaseGlS G2 and mitosis and what happens in each phase eg when does replication of chromosomes happen f Know human chromosome structure and number in humans 22 nonidentical pairs of autosomes either XX or XY 46 g Be able to describe Mitosisihow it works what the result is why cells do it h Be able to distinguish between a sister chromosome and a homologous pair of chromosomes and know how chromosomes line up at the metaphase plate before the cell divides into two i Know the function of membranes the nucleus the mitochondria and why they are important 3 Use genetic crosses to calculate the probability of inheritance of particular alleles and to predict phenotypes of offspring Mendelian Genetics a Predict progeny g u 1 pi f 1 39 given the g u t p of the parental gametes b Identify an allele s mode of inheritance from progeny phenotypes c Know the difference between the chromosomal content of a gamete and a regular body cell be able to draw a Punnet Square and use it for visualizing possible offspring from a cross between two individuals d Know what you do when there are multiple possible outcomes in a Punnett square that match the outcome you re looking for e Be able to calculate the chance frequency of producing a gamete or an offspring with a certain genotype Know how to do this for genes on different chromosomes as well as genes that are linked f Understand Mendel39s Laws the law of segregation and the law of independent assortment and how they relate to meiosis g Know how Mendel s laws apply to working genetic problems IV Exceptions to Mendel39s laws a Describe the phenomenon of linkage and its consequences on assortment of alleles during meiosis 1 Understand why linkage has an effect on segregation of chromosomes into gametes 2 Diagram the process of recombination crossing over during meiosis and explain how it can lead to new combinations of linked alleles 3 Understand how to figure out parental and recombinant gametes 4 Explain how a specific combination of linked alleles can appear more frequently 5 Determine probability of inheriting particular allele combinations of linked genes given map distances between the genes b Know the terms A 39 and 39 r and how they are different cUnderstand how multiple alleles for a single can change the number of possible phenotypes in a population d Compare the outcome of a cross with simple dominantrecessive alleles to the outcomes of a cross with lethal alleles or codominant alleles e Know the different blood type alleles and how they make the different blood types A AB 0 B 1 1 MUST KNOW TERMS Allele Genotype Phenotype Gene Plasma membrane Protein Homozygous Heterozygous Dominant Recessive Sister chromosomes Replicated chromosome Homologous chromosomes Gamete Carriers Last class Review Exam 1 5 Below is a karyotype of a genetically normal female The karyotype was made from cells undergoing metaphase of mitosis The circle contains ll ll i ii 1 l 1 if i 1 l l a ll 5 ll ll 5 1 l 3 ll A sister chromosomes but not homologous chromosomes B homologous chromosomes but not sister chromosomes C sister chromosomes and homologous chromosomes D neither sister chromosomes nor homologous chromosomes 11 Considering the drawing above which of the following is a possible cell in metaphase of meiosis ll assume no recombination 2 Two different individuals have a mutation on chromosome 18 This mutation when present in one copy results in abnormal fingernails and toenails Jeff has this mutation in all of his cells Tom also has the mutation but only in the cells of his liver Which IndIVIduaI has a chance of passing this trait to his children A Jeff B Tom C Both D Neither 1 A person heterozygous for an autosomal dominant trait that causes excess body hair has children with a person who has normal body hair What is the probability that their first offspring will have excess body hair A 100 B 50 C 25 D 0 Genes linked together on the same chromosome linkage affects the probability of aee combinations in the gametes Exam 2 4 Below are two DNA coding strand sequences The 5 ATG encodes the start codon Tom s DNA sequence is 5 ATG CGC TTA CCC TTA CTC CTA TAA3 Harry s DNA sequence is 5 ATG CGC TAA CCC TTA CTC CTA TAA 3 Harry s mutation causes the premature termination of a Replication b Transcription c Translation d Answer B and C e All of the above 6 Two parents who do not have colorblindness have a daughter who has one X chromosome and is colorblind Colorblindness is inherited in an X Iinked recessive manner In which parent did the nondisjunction event occur a Mother b Father c Cannot be determined 7 When did the nondisjunction event described in question 6 occur a Meiosis b Meiosis II c Cannot be determined 10 Below is a kar ot e of a veneticall normal female The karyotype was made from cells undergoing metaghase of mitosis The circle contains how many double stranded molecules of DNA a1 b2 c4 d6 e8 ll ll 11 i isquot 3i i u ii a i ii si 2 I I u 3912 E e as 1 Exam 3 1 In some forms of gene therapy for autosomal recessive diseases a normal copy ofthe affected gene is inserted into stem cells from the person who has the disease and those altered stem cells are then reintroduced into the person s pooy where they will develop Into particular cell types Assuming that the normal copy of the gene that was inserted is normally transcribed and translated if one were to look at the ratio of normal protein mutant protein produced by these altered cells the ratio would be a 1 normal 2 mutant b 2 normal 2 mutant c 2 normal 1 mutant 8 Once a transgenic animal has been made a all the chromosomes in each cell contain the foreign piece of DNA randomly inserted b all cells of the organism contain the foreign piece of DNA randomly inserted into a single chromosome c all cells of the organism contain the foreign piece of DNA inserted into a specific chromosomal location determined by the scientist d some but not all cells of the organism contain the foreign piece of DNA quRl quotn 12 After transforming bacterIal cells WIth your A R ligated plasmid you plate the cells on media 0mmquot containing ampicillin You separately purify E 553354 l DNA from 3 IndIVIdual colonIes and perform q gsquot complete restriction digest with EcoRI on the purified DNA You run the results on a gel shown below Not Ry quotdlll Bam Hi Which of your samples contains the cloning vector and the Sup35 gene a The sample in lane 1 b The sample in lane 2 c The sample in lane 3 cl The sample in lane 4 e The samples in lanes 1 and 3 14 You are testing children to see if they have a lethal autosomal dominant disease called Huntington s chorea H You use PCR analysis combined with restriction enzyme digests to test the children Below is a region of DNA from the middle of this gene that you have amplified using PCR Huntington s is the result ofa point mutation shown below underlined The restriction enzyme Bam HI cuts between the G and the A in the following sequence GGATCC CCTAGG Sequence of normal gene CGTTAGGATCCCTACAA GCAATCCTAGGCGATGTT Sequence of mutant gene CGTTAGAATCCG CTACAA GCAATCIGAGGCGATGTT After amplifying with PCR and cutting with Bam Hi how many bands will you see on the gel if the child has Huntington s You can assume that any child you test with the disease has genotype Hh a 1 b 2 c 3 cl 4 16 You have just cloned Joe the sheep by taking an egg from an unrelated sheep named Mary removing its nucleus and replacing it with the nucleus of a cell from Joe You then transplant the egg back into Mary and let her carry the embryo to term When Mini Joe is born the mitochondria in his cells will match the mitochondria from a his mother b Joe c Mary d a mixture ofJoe and Mary 17 If you now look at Mini Joe s phenotype with respect to genes on the X chromosome you will find that a it may be different from Joe s due to X inactivation b it will be the same as Joe s c you need more information 05m BoxC Below is a double strand DNA helix Transcription is occurring and the mRNA transcript is represented by the arrow Box B is the promoter segment The arrow at the end of the mRNA indicates the direction of transcription The DNA sequence encoding the AUG start codon for this gene is located in BoxA Box B iTlTT39 A i 4


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