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bio- ch 12

QuestionAnswer
2 different types of mutations gene/ chromosomal
what times can mutations occur? DNA replication, cell division, external factors
chromosomal mutation involves changes to the structure or # of chromosomes
types of chromosomal mutations deletion, duplication, inversion, translocation, nondisjunction
deletion portion of the chromosome is lost
duplication segment of chromosomes is repeated
inversion segment of chromosomes is reversed (rotated 180 degrees)
translocation part of one chromosome breaks off and attached to another
nondisjunction chromosomes fail to separate during cell division, leading to an abnormal number of chromosomes
down syndrome trisomy 21, intellectual disabilities, flat facial features
turner syndrome missing x chromosome in females; infertility, short stature, heart defects
Klinefelter syndrome extra x chromosome in males; infertility, tall stature, learning disabilities
gene mutations involve changes to the nucleotide sequence of a specific gene
types of gene mutations point, substitution, frame shift, silent, missense, nonsense
point mutation a single nucleotide changes
substitution one base is replaced by another
frameshift insertion/deletion of nucleotides, causing a shift in the reading frame
silent mutation no change in the protein sequence
missense mutation a different amino acid is incorporated
nonsense mutation premature stop codon is created
sickle cell anemia caused by single nucleotide change in hemoglobin gene; abnormal red blood cells
cystic fibrosis caused by mutation in CPTR gene on chromosome 7 that codes for a protein that regulates salt and water movement; thick mucus in lungs/digestion problems/infections
huntington's disease CAG codon repeats in HTT gene; neurodegeneration, movement issues, cognitive decline
achondroplasia mutation in FRFR3 gene; autosomal dominant; short limbs, large head
color blindness deletion, x-linked, cones in eyes are missing,
cri-du-chat syndrome deletion of short arm on chromosome 5; distict facial features, intellectual disability, weak muscles, low birth weight, high pitched voice for 1st 2 yrs of life
diGeorge Syndrome deletion of small part of chromosome 22; small parathyroid glands, low calcium
duchene muscular dystrophy X-linked; caused by deletion, duplication, or point mutation; mutation on x chromosome fails to code for dystrophin protein that muscles need
Edwards syndrome trisomy 18; nondisjunction; seizures, scoliosis, kidney problems, etc
fragile X syndrome CGG gene deletion more than 200 times, dominant X gene; intellectual disabilites, narrow face, low muscle tone
klinefelter syndrome XXY chromosomes, nondisjunction, taller height/less muscle mass
Jacobs syndrome XYY chromosomes, taller, learning disabilities, speech delays
marfan syndrome frameshift-insertion/deletion; autosomal dominant, chromosome 15, reduced fibrillin 1 protein; cardiovascular, skeletal, or ocular damage; affects connective tissue
patau syndrome trisomy 13; nondisjunction; difficulty gaining weight, extra fingers/toes, ears forming on head, low muscle tone
PKU substitution; inherited; PAH gene on chromosome 12; toxic buildup of phenylanine in blood/brain by affecting liver
tay-sachs substitution in HEXA gene on chromosome 15; inherited autosomal recessive; cherry red spots in eyes, head growth, movement/swallowing problems
william's syndrome chromosomal; deletion in chromosome 7; deletes 25-27 genes; chronic ear infections, hearing loss, scoliosis, sleep problems, etc
Created by: gschultz2028
 

 



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