Project1

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Northeastern University *

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1151

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Biology

Date

Feb 20, 2024

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pdf

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Uploaded by CountGoat3425

Project One: A half dozen monogenic diseases ( 42 pts possible) Each person will hand in a separate worksheet even though you will work on the “Lab” portion as a group. Pre-lab . Before lab, define the following pairs of terms, then check your answers with those of your labmates (6 pts total): 1. monogenic trait versus polygenic trait A monogenic trait is a trait controlled by one gene, while a polygenic trait is controlled by multiple genes. 2. autosome versus sex chromosome An autosome is any chromosome that’s not a sex chromosome and a sex chromosome is a chromosome designed to determine the sex of the organism. 3. wild-type allele versus mutant allele A wild-type allele is common in widl and natural populations while a mutant allele is mutated and different. 4. dominant trait versus recessive trait A dominant gene takes priority in expression over a recessive gene. 5. penetrance versus expressivity Penetrance is whether or not a gene is expressed clinically and expressivity is the difference between clinical expression between individuals with the game genotype. 6. genetic factor versus environmental factor Genetic factors are influences that are present due to the organism’s DNA and environmental factors are influences that are external to the organism that the organism can adapt to. Lab . For each of the half-dozen human diseases listed below, find the following information by searching the internet (or a textbook): a. Which gene is mutated? b. On which chromosome and arm (p or q) is the gene located? c. At the DNA sequence level, what sort of mutation is most typically involved? Examples: a single base change in an exon; a deletion of an intron; an insertion into the promoter region, etc. d. What is the inheritance pattern for the trait: dominant or recessive? e. What is the most prominent phenotype associated with the disease? 6 pts possible for each of the 6 diseases = 36 pts

The diseases :  Cystic fibrosis  Sickle cell disease  Huntington’s disease  Phenylketonuria  Hemophilia A  Duchenne muscular dystrophy Disease: Cystic fibrosis Gene involved: cystic fibrosis transmembrane conductance regulator (CFTR) gene Chromosome and arm: chromosome 7 at the q31 Type of mutation: deletion of an intron Inheritance pattern: autosomal recessive Incidence: Approximately 1 in 3,300 people/births. Phenotype: causes mucus, sweat, and digestive material to become thick and sticky ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ Disease: Sickle Cell Disease Gene involved: HBB gene Chromosome and arm: chromosome 11p15.5 Type of mutation: single base pair mutation Inheritance pattern: autosomal recessive Incidence: Approximately 1 in 365 Black American people/births. (couldn’t find total, only based on race) Phenotype: decreased height, weight, BMI, and delayed sexual maturation ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ Disease: Huntington’s disease Gene involved: HTT gene Chromosome and arm: chromosome 4p16 Type of mutation: insertion (one area is copied too many times) Inheritance pattern: autosomal dominant

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