HUMAN

INHERITANCE
Chapter 14

HUMAN GENETIC ANALYSIS

Inheritance patterns in humans are

typically studied by tracking observable

traits that crop up in families over many
generations

Data is organized in pedigree charts

HUMAN GENETIC ANALYSIS

Pedigree chart symbols

HUMAN GENETIC ANALYSIS

HUMAN GENETIC ANALYSIS

Some easily observed human traits follow

Mendelian inheritance patterns

Controlled by a single gene

Two alleles, one dominant and one recessive

HUMAN GENETIC ANALYSIS

Mid-digital hair
Dominant condition (MM, Mm)
Presence of hair between the two top joints of your fingers
Even the slightest amount of hair indicates the dominant

phenotype

Recessive condition (mm)

Complete absence of hair

HUMAN GENETIC ANALYSIS

Tongue rolling
Dominant condition (TT, Tt)
Ability to roll ones tongue

Recessive condition (tt)

Inability to roll the tongue

HUMAN GENETIC ANALYSIS

Widows peak
Dominant condition (WW, Ww)
A distinct downward point in the frontal hairline

Recessive condition (ww)

A continuous hairline

HUMAN GENETIC ANALYSIS

Earlobe attachment:
Dominant condition (EE, Ee)
Detached or free earlobes

Recessive condition (ee)

Earlobes attached directly to the head

HUMAN GENETIC ANALYSIS

Hitchhikers thumb
Dominant condition (HH, Hh)
Cannot extend the thumbs backward to approximately 45

Recessive condition (hh)

Can bend the thumbs at least 45, if not further

AUTOSOMAL INHERITANCE PATTERNS

Dominant Patterns
Dominant alleles are expressed in

both homozygotes and

heterozygotes
The trait specified tends to appear
in every generation

AUTOSOMAL INHERITANCE PATTERNS

Dominant Patterns
Examples
Achondroplasia
The allele interferes with formation of the embryonic

skeleton
Adults average about 44 and have short limbs
Huntingtons disease
Nervous system slowly deteriorates
Involuntary muscle movements increase
Hutchison-Guilford Progeria
Drastic premature aging

AUTOSOMAL INHERITANCE PATTERNS

Recessive Patterns
Expressed only in homozygous

people
Traits may skip generations
Heterozygotes are carriers of the
allele, but do not express the trait

AUTOSOMAL INHERITANCE PATTERNS

Recessive Patterns
Examples
Albinism
Lack of melanin
Tay-Sachs disease
Malfunction of a lysosomal enzyme that breaks down

gangliosides

Lipids accumulate to toxic levels in nerve cells

Cystic Fibrosis
Difficulty breathing
Chronic lung infections

X-LINKED INHERITANCE PATTERNS

The X and Y chromosomes

carry different genes

Recessive alleles on the X
chromosome create a
unique pattern of
inheritance

X-LINKED INHERITANCE PATTERNS

More males affected
Each male receives one X and one Y chromosome
Two possible genotypes: XAY, XaY

Females receive two X chromosomes

Three possible genotypes: XAXA, XAXa , XaXa

Thus heterozygous males are affected while

heterozygous females are not

X-LINKED INHERITANCE PATTERNS

Affected fathers cannot pass X-linked recessive alleles

to a son

All children who inherit their fathers X chromosome are

female

XA

Xa

XA

XAXA XAXa

Daughters

XAY

Sons

XaY

X-LINKED INHERITANCE PATTERNS

Affected fathers cannot pass X-linked recessive alleles

to a son

Heterozygous females are the bridge between an affected

male and his affected grandson

Affected father

XA

Heterozygote
daughter

XA

XA

Xa

Xa

XAXa XAXa

XA

XAXA XAXa

XAY

XAY

XAY

XaY

Affected
grandson

X-LINKED INHERITANCE PATTERNS

Examples
Red-Green color blindness
Hemophilia A
Duchenne Muscular Dystrophy

Fig. 14.8, p. 209

X-LINKED INHERITANCE PATTERNS

X-linked dominant alleles that cause

disorders are rarer because they tend to be

lethal in male embryos

HERITABLE CHANGES IN
CHROMOSOME STRUCTURE
Changes in chromosome structure
Are rare
Usually cause drastic health effects
Responsible for ~1/2 of miscarriages
Genetic disorders

Sometimes evolutionarily important

Occur spontaneously or induced by exposure to

certain chemicals or radiation

HERITABLE CHANGES IN
CHROMOSOME STRUCTURE
Changes in chromosome structure
Duplication
Happens during prophase I of meiosis
Crossing over occurs unequally between homologs
One chromosome will have a deleted segment
The other will have the duplication
Huntingtons

HERITABLE CHANGES IN
CHROMOSOME STRUCTURE
Changes in chromosome structure
Deletion
The loss of some portion of a chromosome
Cause serious disorders and are often lethal in mammals
Cri-du-chat
Deletion in chromosome 5
Causes mental impairment and an abnormally shaped

larynx

HERITABLE CHANGES IN
CHROMOSOME STRUCTURE
Changes in chromosome

structure

Inversion
A segment of DNA is flips in the

reverse direction

Usually no genes are lost

Causes infertility
Inverted segments cause

homologs to mispair during

meiosis

HERITABLE CHANGES IN
CHROMOSOME STRUCTURE
Changes in chromosome

structure

Translocation
A piece of one chromosome may break and

attach
to a different chromosome or
to a different part of the same
chromosome
Burkitts lymphoma: reciprocal translocation
between chromosomes 8 and 14
Can cause infertility (mis-pairing during
meiosis)

HERITABLE CHANGES IN
CHROMOSOME STRUCTURE
Chromosome changes in Evolution
Large-scale changes in chromosomes can lead to speciation
Most are usually lethal or cause genetic disorders and

infertility

In a very few instances chromosome changes can be

adaptive

Multiple globin chain genes possibly arose due to duplications

An individual homozygous for an inversion could become the

founder of a new species

HERITABLE CHANGES IN
CHROMOSOME NUMBER
During meiosis homologs may fail to separate
Referred to as nondisjunction
Affects the chromosome number at fertilization
Normal gamete (n) + nondisjunction gamete (n + 1) = zygote (2n +1)
Trisomic zygote will have three of one type of chromsome and

two of every other type

Normal gamete (n) + nondisjunction gamete (n 1 1) = zygote (2n -1)

monosomic zygote will have one of one type of chromsome

and two of every other type

Metaphas
eI

Anaphas
eI

Telophas
eI

Metaphas
e II

Anaphase
II

Telophase
II

Stepped
Art

Fig. 14.12, p. 212

HERITABLE CHANGES IN
CHROMOSOME NUMBER
Trisomy and monosomy
Trisomy (polyploid) is common in some plants, insects,

and fish
Usually fatal in humans
Trisomy 21 individuals will survive infancy
Downs syndrome

Fig. 14.13, p. 213

HERITABLE CHANGES IN
CHROMOSOME NUMBER
Changes in Sex Chromosome Number
Turner syndrome (XO)
Inherit an unstable Y from the dad
Female, short, non sexually mature
XXX syndrome
Usually does not result in physical or medical problems

Klinefelter syndrome (XXY)

Overweight, tall, normal intelligence, estrogen > testosterone
XYY syndrome
Taller than average, mild mental impairment
NOT predisposed to a life of crime

SUMMARY
Human genetic analysis
Pedigree charts

Autosomal inheritance patterns

Dominant and recessive

X-linked inheritance patterns

More common in males

Chromosome structure changes

Duplications
Deletions
Inversions
Translocations

Chromosome number changes

Trisomy
Sex chromosome numbers

Fig. 14.17, p. 217

p. 217