M.

04 MODES OF INHERITANCE AND PEDIGREE ANALYSIS

Dr. Professor || September 2021 CYTOGENETICS
Transcribers: Delicano, Alleen Nove
Editors: Delicano, Alleen Nove

I. MODES OF INHERITANCE

• Rules that explain the common patterns of single-gene

transmission Passing of a trait depends on whether:

o Determining gene is on an autosome or on a sex

chromosome

o Allele is recessive or dominant:

A. Autosomal Dominant
B. Autosomal Recessive
C. X-linked Recessive
D. X-linked Dominant
E. Y-linked

A. Autosomal Dominant Inheritance

X-Linked Traits

• Patterns of expression on the X chromosome differ in

females and males.
Chapter 3

Females—X-linked traits are passed like autosomal

o
traits.
X-Linked Traits
B. Autosomal Recessive Inheritance o Males—A single copy of an X-linked allele causes
expression
Table 6.2 of the trait
Comparison or illness.Recessive and X-
of X-linked
o Males and females can be affected. linked Dominant Inheritance
• Human male is considered hemizygous for X linked traits.
o Affected males and females can transmit the gene, X-Linked Recessive Trait X-Linked Dominant Trait
unless it causes death before reproductive age.
Always expressed in the male Expressed in females in one copy
o Trait can skip generations.
Expressed in a female homozygote and
Much more severe effects in males
very rarely in a female heterozygote
o Parents of an affected individual are heterozygous or
have the trait. Affected male inherits trait from High rates of miscarriage due to
Chapter 3
heterozygote or homozygote mother early lethality in males
Table Conditions
o 4.2 likely to occur
Comparison in families with
of Autosomal Dominant and
consanguinity. Affected female inherits trait from
Autosomal Recessive Inheritance affected father and affected or
Passed from male to all daughters
but to no sons
heterozygote mother
Table 4.2 Comparison of Autosomal Dominant and
Autosomal Recessive Inheritance © McGraw-Hill Education. 4-10

C. X-Linked Recessive Traits

Autosomal Dominant Autosomal Recessive

Males and females affected, with
equal frequency
Successive generations affected
until no one inherits the mutation
Affected individual has an affected
parent, unless he or she has a de
novo mutation
Males and females affected, with
Examples:
equal frequency
o Ichthyosis = Enzyme
deficiency blocks removal
Can skip generations of cholesterol from skin
cells
o Colorblindness
o Hemophilia = Disorder of
Affected individual has parents who
are affected or are carriers blood-clotting
(heterozygotes)

© McGraw-Hill Education. 4-7

Sex Determination in Humans

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D.M.04X-Linked Dominant
MODES OF INHERITANCE Traits
AND PEDIGREE ANALYSIS

D. X-Linked Dominant Traits o because the male is hemizygous – he only has one
allele of an X-linked trait

5. A father transmits his allele of X-linked genes to his

daughters, but not his sons.
o A mother transmits an allele of X-linked genes to both
her daughters and her sons

b: Courtesy of Richard Alan Lewis M.D., M.S., Baylor College of Medicine

E. Y-Linked Traits (Holandric)

o Genes on the Y chromosome are said to be Ylinked

© McGraw-Hill Education. 4-14
o Y-linked traits are very rare
Example 1
o Transmitted from male to male
- A female does not have a Y chromosome • A partial pedigree of Egypt’s
Ptolemy dynasty showing:
o Currently, identified Y-linked traits involve infertility and
are not transmitted o Genealogy not traits
o Extensive inbreeding
II. PEDIGREE ANALYSIS

o Pedigrees are symbolic representations of family

relationships and the transmission of inherited traits.

o Describes the process of interpretation of information

displayed as a family tree or chart

o Used to work out the probability that someone in a

family will inherit a condition

• Pedigree Chart

- A diagram that shows the occurrence and

appearance or phenotypes of a particular gene or Example 2
organism and its ancestors from one generation to
next • A pedigree showing
marriage of first cousins
There are five things to remember in reasoning about
pedigrees:

1. An unaffected individual cannot have any alleles of a

dominant trait
o because a single allele of a dominant trait causes an
individual to be affected

2. Individuals marrying into the family are assumed to

have no disease alleles they will never be affected and A. Autosomal Dominant Trait
can never be carriers of a recessive trait.
o because the trait is rare in the population o Trait is common in the pedigree

3. An unaffected individual can be a carrier (have one o Trait is found in every generation
allele) of a recessive trait.
o because two alleles of a recessive trait are required o Males and females equally likely to be affected
for an individual to be affected
o Each child of an affected individual has a 50% chance
4. When a trait is X-linked, a single recessive allele is to be affected
sufficient for a male to be affected.

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 M.04 MODES OF INHERITANCE AND PEDIGREE ANALYSIS

Examples:

o Neurofibromatosis
o Huntington Disease

ually

ed

B. X-linked Recessive
o Does not skip generations, can affect both sexes •
Polydactyly = Extra fingers and/or toes • Hemophilia B
e

sic Guide, by Jorgenson, Yoder & Shapiro

B. Autosomal Recessive Trait

o Trait is rare in pedigree

o Trait often skips generations (hidden in heterozygous

carriers)

o Males and females equally likely to be affected

o Parents of affected child are unaffected gene carriers

and have a 1 in 4 or 25% recurrence risk
C. X-linked Dominant
C. X-linked Dominant
Examples:

o Cystic fibrosis
B. Autosomal Recessive Trait
o
o
Sickle cell anemia
Phenylketonuria (PKU
o Tay-Sachs disease

• Consanguinity
First cousins
Increased
o
consanguinity (over
sanguinity general population) is •For rare conditions, females are about 2x as likely to be affected
o For rare conditions, females are about 2x as likely to
often found between than
ased consanguinity be affected than males
parents of a(over
child with males
•May be lethal in males and usually milder, but variable,
a rare autosomal
al population) is often
recessive disorder
in females o May be lethal in males and usually milder, but
•Affected males pass the gene to all of
variable, intheir daughters, who will be
females
between oparents
Conditionof a appear
may child affected, and to none of their sons (NO male-to-male transmission)
to be dominant in a •Sons and daughters of affected females have 50% chance of being
rare autosomal recessive
consanguineous
o Affected males pass the gene to all of their daughters,
affected (similar to autosomal dominant)
who will be affected, and to none of their sons (NO
der family
male-to-male transmission)
dition may appear to be
o Sons and daughters of affected females have 50%
nant in a consanguineous chance of being affected (similar to autosomal
dominant)
o Albinism = Deficiency in melanin production Parents
are inferred to be heterozygotes
o X-linked dominant diseases are extremely
unusual
The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro o Often, they are lethal (before birth) in males and
only seen in females

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 M.04 MODES OF INHERITANCE AND PEDIGREE ANALYSIS

Examples: POINTS TO REMEMBER

-linkedoo Recessive
incontinentia pigmenti (skin lesions)
X-linked rickets (bone lesions)
• Dominant traits may be rare in population

• Recessive traits may be common in population

e D. X-linked Recessive
• Alleles may come into the pedigree from 2 sources

he • Mutation happens
ghters
• Often traits are more complex and affected by complicating
(NO factors:
sion)
o Non-penetrance
hance o New mutation
s. o Adult-onset conditions
s have o Consanguinity
cted o nteraction

o Trait is rare in pedigree

o Males are more often affected than females

o Affected males pass the gene to all of their daughters

and none of their sons (NO male-to-male
transmission)

o Daughters of carrier females have a 50% chance to be

unaffected carriers.

o Sons of carrier females have 50% chance to be

affected

Examples:
Y-linked (Holandric)
o 6PD Deficiency
o Red-Green
o Colorblindness

Y-linked (Holandric)

o Only males are affected

are affected
o Affected males pass the disease gene to all their sons
es pass the and
disease
to none ofgene to all
their daughters
d to III. IMPORTANCE OF PEDIGREES TODAY
daughterso Helps families identify the risk of transmitting an
inherited illness
e: A Basic Guide, by Jorgenson, Yoder & Shapiro
o Starting points for identifying and describing, or
annotating, a gene from the human genome sequence

o Meticulous family records are helping researchers

follow the inheritance of particular genes

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