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Heredity. Chromosomes. We discussed earlier in this unit, the usage of karyotype charts Humans have 23 pairs of chromosomes 1 sex chromosome pair 22 autosome pairs Recall that males have one X and one Y, while females have two X’s

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chromosomes
Chromosomes
  • We discussed earlier in this unit, the usage of karyotype charts
  • Humans have 23 pairs of chromosomes
    • 1 sex chromosome pair
    • 22 autosome pairs
  • Recall that males have one X and one Y, while females have two X’s
  • These split during meiosis, and we can use a Punnett square to determine the possible outcomes for sex of offspring
slide3

From this, we can see that the mother can only supply an X chromosome

  • The sex of the child is solely due to the father
  • Sperm cells should be produced in equal numbers for X and Y
human genetics
Human Genetics
  • Recall human blood type has multiple alleles
  • The traditional convention for expressing dominance and recessiveness no longer works
  • Alleles are often expressed as superscripts
  • Both A and B types are codominant, and O is recessive
  • A is IA, B is IB, and O is i
  • The following chart summarizes the genotypes and phenotypes
slide6

Because A and B are codominant, they both show up, but do not blend

  • The individual will be AB
  • A lack of either results in O
example
Example
  • A male heterozygous for blood type A plans to have children with a female who is heterozygous for B. What possible blood types could their offspring have?
slide8

IBi

IB

i

IAIB

IAi

IA

IAi

i

IBi

ii

slide9

The possible blood types for the offspring would be AB, A, B or O

  • Additionally, the Rh+ factor is a dominant allele
pedigree charts
Pedigree Charts
  • After identifying the nature of a trait, geneticists often look at family history
  • By understanding the phenotypes of certain members of a family, they can gather more info about others
  • This is organized in a pedigree chart
human traits
Human Traits

A square represents

a male.

A circle represents

a female.

A vertical line and a bracket connect the parents to their children.

A horizontal line connecting a male and a female represents a marriage.

A shaded circle or square indicates that a person expresses the trait.

A circle or square that is not shaded indicates that a person does not express the trait.

slide12

These only work for traits that are thought to be controlled by genetics alone

  • Also works best on traits the are due to one gene
genetic disorders
Genetic Disorders
  • Many conditions are due to recessive alleles
  • These will only manifest themselves if a dominant allele is present
  • An example is cystic fibrosis (CF)
cystic fibrosis
Cystic Fibrosis
  • Caused by a recessive allele
  • Sufferers of cystic fibrosis produce a thick, heavy mucus that clogs their lungs and breathing passageways
slide15
The most common allele that causes cystic fibrosis is missing 3 DNA bases.
  • As a result, the amino acid phenylalanine is missing from the CFTR protein.
from mutation to disease
From Mutation to Disease
  • Normal CFTR is a chloride ion channel in cell membranes
  • Abnormal CFTR cannot be transported to the cell membrane
  • If it does, it will not transport Cl- as easily
  • Part 1
  • Part 2
slide18

Other conditions arise from codominant alleles

  • In these cases, the heterozygotes have a different phenotype
  • You saw this with thalassemia in question 12
  • Sickle cell disease is another example
  • Individuals that are heterozygous for this usually have normal blood cells, but are resistant to malaria
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