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Chapter 11

Simple Inheritance and Meiosis


Driving Questions
1. How does the organization of chromosomes, genes, and their alleles
contribute to human traits?

2. How does meiosis produce genetically diverse gametes?

3. Why do different traits have different patterns of inheritance?

4. What are some practical applications of understanding the genetic basis


of human disease?
Cystic fibrosis (CF)

Genetic disease caused by a single gene


mutation
– change in nucleotide sequence of
DNA
– creates a new mutant CFTR allele
– Which leads to a non-functional
CFTR protein
Cystic fibrosis (CF)
CFTR is a
transmembrane
regulator protein which
normally moves ions in
and out of cells

When CFTR protein is


distorted, abnormally
thick mucus builds up in
the lungs of the Cystic
Fibrosis patient
Humans are diploid organisms
Alleles are alternative versions of the
same gene

Diploid organisms have two copies of


every chromosome

Homologous chromosomes are a pair


of chromosomes containing the same
genes.

In a diploid cell, one homologous


chromosome is inherited from the
mother, the other from the father.
Humans are diploid organisms
In the case of CF, having one normal allele is sufficient to remain healthy.
Sexual reproduction
Requires special sex cells: sperm, egg

• Gametes: haploid reproductive cells


that carry one copy of each
chromosome

• Meiosis: special cell division producing


genetically unique haploid cells

• Haploid sperm fertilizes haploid egg

• The result is a diploid zygote

• Zygote divides by mitosis into an


embryo
Meiosis
Two separate divisions steps

• Meiosis I
– separates homologous
chromosomes
– each daughter cell is
haploid
– each chromosome still has
two sister chromatids
Meiosis

• Meiosis II
– separates sister chromatids
– four haploid daughter cells
– develop into egg or sperm
Meiosis
Meiosis and genetic
diversity
No two gametes are identical.

Recombination: when maternal and


paternal chromosomes pair and
physically exchange DNA segments

Independent assortment: alleles of


different genes are distributed
independently of one another

Meiosis is the reason that not every


offspring has CF, even if the parents
are carriers.
Inheriting cystic fibrosis
Genotype is the particular genetic or allele makeup of an
individual

Phenotype is the observable or measurable features of an


individual

• People with normal phenotypes can still pass CF allele to


offspring (known as carriers)

• People with CF will not necessarily have offspring with CF


Cystic fibrosis is recessive

CF is caused by a recessive allele


– an allele that affects phenotype only if the organism has two
copies of that allele
– hidden by normal or dominant allele

• recessive allele designated by a lower-case letter (a)


• dominant allele designated by upper-case letter (A)
Genotype: recessive and dominant
Heterozygote: two different alleles (Aa)
– phenotype is normal
– individual is a carrier

Homozygote: two identical alleles

• Homozygous dominant (AA)


– phenotype is normal

• Homozygous recessive (aa)


– phenotype is CF (mutant)

• Cystic Fibrosis is a recessive trait


Genotype: recessive and dominant

Punnett square
• A diagram to determine the
probabilities of offspring
having particular genotypes

• Based on genotypes of the


parents

• Matches up all possible


gametes
Inheritance of dominant trait

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