Chromosomal Basis of Inheritance Flashcards
Explain study by Thomas Hunt Morgan that involves Drosophila melanogaster (fruit fly)
He found a male with a white eyes, mated it with a female with red eyes, F1 generation all had red eyes, F2 generation showed 3 red: 1 white (males had white)
Fly’s eye color linked to biological sex
Male flies get X chromosome from their mother who is heterozygous for red eye leading to fifty-fifty split of phenotypes
Wild-type
Most common character phenotype
Mutant
Less common character phenotype
Recombinant phenotype
Occurs when crossing over occurs
If offspring possess a non-parental phenotype
Linked genes
Do not assort independently of each other
Travel together during meiosis and fertilization
Unlinked genes
Assort independently of each other
Not near each other on the same chromosome or found on separate chromosomes (crossing over occurs at prophase l between homologous chromosomes, more likely when genes are far apart)
Incomplete linkage
Give rise to recombinants
Genes present on a chromosome more likely to cross over
Why are males more likely to inherit sex-linked disorders compared to females
Males only have one X chromosome, so if they receive the recessive trait from the mother they would have the sex-linked disorder
Females can be heterozygous so they are carriers
Examples of human sex-linked disorders
Duchenne muscular dystrophy - due to absence of X-linked gene for muscle protein, dystrophin (individuals rarely live past early 20’s)
Hemophilia - absence of one or more clotting factors (bleeding in muscles and joints)
Hypertrichosis - can be present at birth or acquired later in life (excessive or animal-like hair on face and body)
Non-disjunction
Pairs of homologous chromosomes do not separate normally during meiosis 1 or 2
Gametes contain 2 copies or no copies
Aneuploidy
Occurrence of extra or missing chromosome due to non-disjunction, which leads to an unbalanced chromosome complement
Monosomy
XO or X- (Turner’s syndrome)
Trisomy
Down syndrome - 3 copies of chromosome 21
XXX - trisomy X
XYY - Jacob’s syndrome
XXY - Klinefelter’s
Examples of human aneuploid conditions
Down syndrome - due to 3 copies of chromosome 21
Klinefelter’s syndrome - XXY (male sex organs, female characteristics, sterile, normal intelligence)
Monosomy X or Turner’s syndrome - XO or X- (short stature, sterile, normal intelligence)
Trisomy X - (XXX) healthy females with symptoms of developmental delay
Jacob’s syndrome - (XYY) taller than average, below normal intelligence, still able to have children
Cri du chat
Human syndrome based on structural alteration in one of the chromosomes (specific deletion in chromosome 5)
Not an aneuploid condition
Distinct facial features, severe cognitive speech, high pitch cry like distressed cat