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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 2 page Class Notes was uploaded by Mrs. Willis Mante on Thursday October 29, 2015. The Class Notes belongs to MCDB 1041 at University of Colorado at Boulder taught by Staff in Fall. Since its upload, it has received 10 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 Review Sheeta Exam 2 Spermatogenesis and Oogenesis 1 How are these two processes different 2 In what phases of meiosis do ooctyes arrest 3 Why are eggs more likely to have chromosomal abnormalities than sperm 4 What is a critical period of development and why do certain substances produce certain phenotypes when an embryo is exposed to them Multifactorial Inheritance 1 What is the difference between a multifactorial and polygenic trait How do you know from looking at phenotypes whether a phenotype is J quot quotf 2 Why are these kinds of traits are difficult to study 3 How are these traits studied Be able to use heritability concordance and relatedness in calculations Sex Determination Dosage compensation 1 Determination of sex genetic determination Y chromosome gonadal determination SRY region of the Y chromosome phenotypic determination the hormones secreted by gonad and how that impacts development of male and female ducts and determination of secondary sex characteristics Phenotypic characteristics of XXY XXX XO individuals with respect to internal and external sexual features syndromes like androgen insensitivity Properties of X chromosome inactivation when does it happen in development what39s the result and how are individual cells in a female39s body different once inactivation occurs 5 Why does inactivation make a heterozygous female a mosaic 6 How does this X chromosome mosaicism impact the phenotype of a woman heterozygous for a disease allele on the X Non disjunction 1 Be able to define nondisjunction 2 Be able to figure out from the products of meiosis when during meiosis nondisjunction happened 3 Describe how nondisjunction happens and why it has bad consequences Ethics and Genetics 1 Know how PGD preimplantation genetic diagnosis works both in looking at polar bodies and in looking at a single cell from a fertilized egg and what it can tell you 2 Know what stem cells are and how they can potentially be used 3 Know how Molly Nash s brother saved her life DNA structure and Replication 1 Basic composition and structure of DNA bases sugar phosphate how they all fit together 2 Directionality of DNA what this means 5 3 3 Regions of DNA genes intragenic regions promoters introns exons 4 DNA replication what is involved how does it work what direction does it go what is the result where and when does it happen why is it necessary 5 How to identify leading and lagging strands during replication Transcription Translation and mutations 1 Describe how information ows from DNA to RNA to protein 2 How is RNA different from DNA 3 How does transcription work in a basic sense Know the role of RNA polymerase how to identify which strand is the template which is the coding what is the promoter and how is it used why is directionality important and where does transcription happen inside the cell What is the purpose of processing mRNAs before they exit the nucleus Describe in a basic way how mRNA is read into protein ialorp lyg i E 4 9399 0 gt1 509 Describe the following terms as they apply to the genetic code nonoverlapping redundant and universal Know the different types of mutations point mutations missense silent nonsense insertions deletions frame shiftsiand be able to recognize the differences between them and know what affect they will have on the protein How can mutations in DNA affect the protein Be able to reason through a mutation s effect on the initial mRNA the mature mRNA and the protein


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