10/27/19

Lecture 16

Today: Chromosomes and Inheritance

Chromosomal Basis of Inheritance • Autosomal recessive and dominant traits/ disorders (Follow Mendelian
genetics)

• Sex-linked traits/ disorders

• Pedigrees

•Don’t forget that you can set up an appointment with • Aberrations in chromosome number:
me! – Polyploidy
•I will have exams with me on Wednesday. – Aneuploidy
– Abnormal number of sex chromosomes

• Aberrations in chromosome structure:

– Deletion
– Inversion
– Translocation
– Duplication

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Reminder: Autosome versus sex chromosome

A karyotype shows the 46 chromosomes in a human
Reminder: Dominant versus recessive
_______– in humans, 22 • ______ – the allele that is expressed in the heterozygous
pairs of autosomes, which
are non-sex-determining
condition
chromosomes

• _______ – the allele that is not expressed in the heterozygous

condition

______– in humans, x and y

- Females (X, X)
- Males (X, Y)

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Autosomal recessive disorders Ex.) Autosomal recessive disorders

• __________ all males and females
• Cystic fibrosis
• More likely if mating within a family/close relatives • Albinism
– Why? • Most metabolic diseases (Examples - PKU, Tay-Sachs disease)
– PKU (Phenylketonuria) – mutation usually in the enzyme that breaks
down phenylalanine, results in buildup in the brain which causes
• Both parents must be heterozygous for an autosomal neurological problems
recessive disorder to manifest – Tay-Sachs disease – mutation that causes neurodegeneration,
– called ___________ because they have the mutant allele but do not common in Ashkenazi Jewish, Cajun, and French Canadian populations
exhibit the disorder
• There is a _______ chance that offspring with have the
disease

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Ex.) Autosomal recessive disorder –Sickle cell anemia Question

• Produce hemoglobin S instead of hemoglobin A in red blood cells
• Hemoglobin S forms crystals that distort the cells, disrupt function Cystic fibrosis is an autosomal recessive disorder. When two
• Note: Both parents must be _______. parents are heterozygous for the disorder, what is the
• There is a 25% chance that offspring with have the disease probability that they will have 1 child with cystic fibrosis?
• In sickle cell anemia, it turns out that having
hemoglobin S makes heterozygote more resistant to
A. ¼ or (25%)
malaria = ______________

B. ½ or (50%)

C. ¾ or (75%)

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Question Question

Cystic fibrosis is an autosomal recessive disorder. If two parents are Cystic fibrosis is an autosomal recessive disorder. If two parents
heterozygous for the disorder, and they have three children what is are heterozygous for the disorder, and they have two children
the probability that all three children will be affected with cystic
fibrosis? what is the probability that one of the children will be
affected with cystic fibrosis?
A. 1/4
A. 1/16 or (6%)
B. 3/4
B. 6/16 (or 37.5%)
C. 1/64

D. 1/12 C. ½ or (50%)

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Ex.) Autosomal dominant disorder –Huntington’s Disease

Autosomal dominant disorders
• Genetic condition in which a single faulty allele on an autosome causes • Causes mental impairment and spastic movements
damage/ a disorder • Usually diagnosed between 35-44 years of age
• ________________, meaning if you have the allele, you have the • If one parent is affected, chance of passing on the disease is 50%
phenotype
• Rare
• Ex.) Huntington’s Disease
– Doesn’t develop until late adulthood
Ethical dilemmas ???
– Usually after child bearing years
– Chances of getting it if one parent affected is 1:2 (50%)
– What about if two parents were affected?
• Ex.) Wardenburg syndrome
– Congenital hearing loss, iris pigmentation abnormalities, skin
hypopigmentation, other features abnormal

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Reminder: Sex chromosomes determine sex

Today: Chromosomes and Inheritance
• Autosomal recessive and dominant disorders (Follow Mendelian genetics) Ø X and Y are not homologous
chromosomes
• Sex-linked disorders Ø But they act as though they were
§ Gametes only carry one of the two
• Pedigrees
Ø Males are XY, females are XX
• Aberrations in chromosome number: Ø X chromosome has 1100 genes;
– Polyploidy
– Aneuploidy
Y has 78 genes
– Abnormal number of sex chromosomes § Sex-linked genes
§ Many X-linked genes are
• Aberrations in chromosome structure: unrelated to sex characteristics
– Deletion § Most sex-linked disorders are
– Inversion X-linked
– Translocation
– Duplication
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Sex-linked disorders Ex.) X-linked recessive disorder – Red/green color blindness

• Sex chromosomes in humans are different (X and Y) • Color blindness – inability to distinguish between colors due to problems
with the protein portion of light-absorbing pigments in the eyes
• Y-linked – Blue pigment – on chromosome 7
– Rare, in part because there are few genes on the Y chromosome – Red and green pigment – on X chromosome
Is it possible for a female to have color-blindness? ____
• X-linked dominant
– In both sexes
– More common in females, because some disorders are fatal in males
with only one X-chromosome

• X-linked recessive
– In both sexes, but more common in males
– Why? The value of having 2 X chromosomes
– Ex.) Hemophilia, Duchenne Muscular Dystrophy, Red/Green color
blindness
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Sex-linked disorders Conditions

• X- inactivation or Lyonization
Today: Chromosomes and Inheritance
• Autosomal recessive and dominant disorders (Follow Mendelian genetics)
– Placental mammals = random
– Blastula stage, each cell (stem cell) picks • Sex-linked disorders
one X chromosome to be active
– Classic Example = Tortoiseshell and Calico • Pedigrees
cats

• Aberrations in chromosome number:

– Polyploidy
– Aneuploidy
– Abnormal number of sex chromosomes

• Aberrations in chromosome structure:

– Deletion
– Inversion
– Translocation
– Can a male tortoiseshell or calico cat – Duplication
exist? 17 18

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Pedigree – a pictoral family history constructed Pedigree – a pictoral family history constructed
to track a trait to track a trait
• Frequently used to track medical conditions in a family • Question: Can a dominant trait skip a generation?
• Parents represented by a horizontal line connecting female 1. Yes
and male
2. No
• Vertical line between parents indicates offspring
• ?- indicates that second allele is unknown for an individual

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Aberrations in chromosome number______

Today: Chromosomes and Inheritance
• ________– one or more entire sets of chromosomes has been
• Autosomal recessive and dominant disorders (Follow Mendelian genetics)
added to genome of a diploid organism
• Sex-linked disorders – So not 2n but rather 3n or more
– How 3n? 1.)
• Pedigrees 2.)
– Results in death in humans but common in some plants (40% of all
• Aberrations in chromosome number: angiosperms, 70% of grasses) and other animal species
– Polyploidy – Useful in horticulture: bananas, grapes, oranges, watermelons that
– Aneuploidy are 3n do not make seeds and tend to be larger with larger fruit
– Abnormal number of sex chromosomes

• Aberrations in chromosome structure:

– Deletion
– Inversion
– Translocation
– Duplication
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Aberrations in chromosome number: ______ Aberrations in chromosome number: aneuploidy

– Most common in humans is Trisomy 21:
• __________– more or fewer chromosomes than normally
• Down syndrome – small heads, below
present in the species full set (the whole set is not altered)
normal IQ, short stature, reduced lifespan,
– Occurs more commonly than polyploidy in humans but usually goes lifespan, infertility in males
unrecognized due to miscarriage
• 90% nondisjunction in egg, 10%
– All human aneuploidy results in miscarriage except aneuploidy of sex nondisjunction in sperm
chromosomes (X and Y), 13, 18, or 21
• Maternal age is a factor, possibly due to
– ___________– the main cause delay in meiosis during oogenesis
• Failure of homologous chromosomes (during Meiosis I) or sister
chromatids (during meiosis II) to separate during cell division

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Aneuploidy is usually caused by nondisjunction Aberrations in chromosome number: aneuploidy

• Aneuploidy – more or fewer chromosomes than normally present in
the species full set (the whole set is not altered)

– Can occur in somatic cells – nondisjunction during mitosis

– observed in cancer cells, thought to lead to cancer development

– Can occur in sex chromosomes:

• Turner syndrome – XO
– Females do not undergo puberty, sterile, immature female
secondary sex characteristics, heart and other defects, normal
intelligence
– No known cases of no X chromosomes suggests …

• Klinefelter syndrome – XXY, XXXY

– Males, small testes, reduced facial hair, some female
characteristics, some developmental delays
• Poly X females – XXX or more
– Triplo-X (XXX) – tall thin, sometimes normal fertility, normal
intelligence
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– XXXX, XXXXX – normal female anatomy but below average IQ 26

Aberrations in chromosome number: polyploidy

versus aneuploidy Today: Chromosomes and Inheritance
• Autosomal recessive and dominant disorders (Follow Mendelian genetics)

• Sex-linked disorders
• Polyploidy – alters the #
of chromosome sets (all • Pedigrees
chromosomes have an
extra copy) • Aberrations in chromosome number:
– Polyploidy
– Aneuploidy
– Abnormal number of sex chromosomes

• Aberrations in chromosome structure:

• Aneuploidy – alters the – Deletion
# of chromosomes – Inversion
– Translocation
– Duplication
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Chromosomal aberration: Balanced

Aberrations in chromosome structure
translocations and infertility
• ________ – a fragment of a chromosome breaks off and does not rejoin
any other chromosome so genes are missing
– Ex.) Cri-du-chat syndrome – deletion of one arm of chromosome 5
• _______ – chromosomal fragment breaks and rejoins a chromosome in
inverted orientation
– Can result in disruptions of gene regulation
• ________ – non-homologous chromosomes exchange pieces
– Reciprocal – switch OR Nonreciprocal – moves 1 part to another chromosome
• _________ – extra copy of a chromosome fragment means extra amount
of genetic info
– Often from crossing over “gone wrong”

Missing white Missing black

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chromosome info chromosome info

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Questions
A female human with 47 chromosomes, including only two X chromosomes has:

A. Sex chromosome aneuploidy

B. Sex chromosome polyploidy

C. Autosomal polyploidy

D. Autosomal aneuploidy

A human embryo with 69 chromosomes would:

A. Be considered polyploid

B. Die in the womb

C. Both A and B

D. Neither A nor B
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