Chromosomal Interitance II Flashcards
what are the 2 types of large scale chromosomal alterations on ptype
abnormal chromosome number
alterations of chromosome structure
describe abnormal chromosome number
caused by nondisjunction in meiosis I or II
one gamete receives 2 of same chromosome, other receives nothing
what gametes are produced by nondisjunction in meiosis I
n+1, n+1, n-1, n-1
what gametes are produced by nondisjunction in meiosis II
n, n, n+1, n-1
define aneuploidy
fert of gametes that have nondisjunctin
results in trisomies(2n+1) and monosomies(2n-1)
T/F: most alterations of chromosome number are viable
F
trisomies and monosomies are leading cause of pregnancy loss; viable ones have sever health probs
why do some indiv live to survive at birth and beyond?
some aneuploidies upset genetic balance to a lesser degree but have syndrome
Down syndrome/Trisomy 21
extra chromosome 21
1/830
inc risk w inc mother age
Patau syndrome (trisomy 13)
extra chromosome 13
1/5000
eye probs, circulation probs, cleft palate
rarely live more than few months
Edward’s Syndrome(Trisomy 18)
1/10000
almost every organ system affected
children do not live more than a few months
Trisomy X (XXX)
1/1000
healthy fertile female
slightly taller than avg
Klinefelter (XXY)
1/500-1000
small testes and sterile
breast enlargement
Monosomy X (XO)
1/2500
only known viable monosomy in humans
sterile female
no female organ maturation
XYY
1/1000
healthy fertile
taller than avg
accessory chromosomes
not necessary for survival
present in some insects, fungi
core chromosomes are essential for cell metab; evolve slowly
accessory chromosomes evolve fast and high mutation rates
Polyploidy
complete nondisjunction
organism has > 2 sets of each chromosome
causes smaller upset in genetic balance than missing 1 chromosome or having 1 extra chromosome
common in plants
inc metabolism of certain tissues (megakaryocytes that produce platelets, hepatocytes and TGCs provide nutrients and metabolites)
Chromosome structure alterations
deletion- chromosomal segment removed
duplication- segment is repeated
inversion- reverses segment w/in chromosome
translocation- segment is moved from 1 chromosome to another
disorders from structurally altered chromosome
cri du chat
myelogenous leukemia
cri du chat
deletion from chromosome 5
small head, retarded, cries like cat
die in infancy or early childhood
myelogenous keukemia
translocation of a larger section of chrom 22 to 9 and a small section of 9 to 22(reciprocal)
chrom 22 called philadelphia chrom
causes cancer by activating gene involved in cell cycle
chromosomal structure and evol
chrom structure changes over time
chrom 2 between humans (fused) and chimps/gorillas/orangs
inheritance patterns that are exceptions to mendelian inheritance
1) genomic imprinting
2) extranuclear genes
Genomic imprinting
certain genes 🧬 have preference over whether the maternal or paternal allele is expressed
ex. in mice, a mouse inheriting a dwarf allele from mom and normal from dad will be normal but a mouse inheriting a dwarf from dad and normal from mom will be dwarf
most imprinted genes are important in embryonic dev
genes imprinted in germ line are not expressed early in dev
extranuclear DNA
mito, chloro, plastids inherit maternal material
zygote cytoplasm was the egg’s
first evidence of extranuclear DNA?
yellow and white patches on leaves of a green plant
ptype of offspring matched only to materal ptype