Module 10

HUMAN GENETICS

The Inheritance of Single-Gene Differences

This material is for exclusive use of BIO 121 (General Genetics) students
under the Science Department, CNSM, Mindanao State University-General
Santos. Unauthorized use of this material is prohibited.
Learning Outcomes Primary References

Concepts of Genetics, 12th Global Edition.

Michael R. Cummings, William S. Klug,
Charlotte A. Spencer, Michael A. Palladino
and Darrell Killian.2019

Principles of Genetics, 7th Edition. John

Gardner, Michael J. Simmons, D. Peter
Snustad. New York : J. Wiley, 2015
 Reasons why man is an unsuitable research
subject
a. Man has a long life cycle.
b. Man can not be made to interbreed randomly and can only bear a
comparatively small number of progeny.
c. He can not be subjected to rigorous experimental conditions. ( i.e.
Closely controlled matings and standardized experiments)

Methods used to study human genetics

•Pedigree Analysis- or family histories; Mode of transmission can be

revealed

•Karyotyping- stained preparations of mitotic metaphase chromosomes are

photographed, individual chromosomes are cut apart and arranged in
pairs
- Through karyotyping, one can detect numerical and structural
abnormalities.
Standard symbols used in pedigrees
 2. Gene
1. DNA

Cell

4. Genome
3. Chromosome
7. Population

5. Individual

6. Family (pedigree)
 Chief method used in human genetics is
pedigree analysis

The family

Inheritance of traits can be observed in

families.

A pedigree indicates the structure of a

family
schematically.

Pedigrees give information on:

Dominance or recessiveness of alleles

Risks (probabilities) of having affected offspring

 1. Pedigree Analysis

MODE OF TRANSMISSION OF HEREDITARY TRAITS

Autosomal Dominance- The trait that is due to an autosomal dominant gene never
skips a generation. The affected individual may either be homozygous dominant or
heterozygous for the trait.

Autosomal Recessive- Marriage between affected individuals produces offsprings who

are also affected by the trait. Affected progenies may also result from mating between
unaffected parents if they are heterozygous for the gene pair.
Sex-linked Dominance- Pedigrees show affected males with unaffected
wives transmit the trait to daughters only.

Sex-linked Recessive- Pedigrees show affected families with unaffected

husbands transmit the trait to sons only, although the daughters are carriers
of the gene.
 Modes of Inheritance

• Autosomal Dominant

Every affected person must have at least 1 affected

parent

Both males and females are affected and capable of

transmitting the trait

No alternation of sexes: we see father to son, father

to daughter, mother to son, and mother to daughter

No skipping of generations

Example: Achondroplasia
 Autosomal recessive
Both parents are normal, but may see multiple affected
individuals in the sibship, even though the disease is very
rare in the population Usually see “skipped” generations.
Because most matings are with homozygous normal individuals
and no offspring are affected

Expect increased consanguinity between the

parents.
That is, the parents are more likely to be relatives

Examples of autosomal recessive diseases

Sickle-cell anemia
Cystic fibrosis
Phenylketonuria (PKU)
• A hereditary disorder due to an autosomally recessive allele
• Most common disease in the U.S (1 in every 2000 births)
• Affected individuals die before reproductive age; no homozygotes reproduce.

Therefore: cystic fibrosis births occur as a result of matings between

heterozygotes.

• High frequency of carriers due to overcompensation; average number of

children in families with CF child is 25% higher than in normal families (2/3 of
normal children are carriers)

• CF gene was identified and sequenced in 1989; encodes a large protein (about
1500 aa) that functions in cell membrane to regulate water balance inside cells.
• Defective CF protein prevents chloride ions from exiting cells, resulting in
excess water inside the cell
 All mucus producing gland malfunction especially those in the
respiratory and digestive systems.

• Leads to the buildup of thick dry mucus in lungs causing a persistent cough and difficulty in
breathing. Residual mucus also good medium for bacterial growth ( pneumonia and other
infections )

• Mucus also clogs ducts of pancreas, blocking passage of important enzymes; food can not be
digested= malnutrition

• Another effect is unusually high concentration of salt in sweat(2-5 times saltier); detected when
parents kiss their babies

• Clinically detected using the sweat test- measures concentration of salt in a sample taken from
a warmed patch on the child’s back or forearm

• CF has no cure; therapeutic abortion as the only means to prevent CF

Human Pedigree exhibiting manifestation of
Cystic Fibrosis
 Sex-linked Recessive

• Act as recessive traits in females, but dominant

traits in males
• An affected male cannot pass the trait on to his
sons, but passes the allele on to all his daughters,
who are unaffected carriers
• A carrier female passes the trait on to 1/2 her
sons
• Examples: Hemophilia A, fragile X syndrome,
Duchenne muscular dystrophy, color blindness

Fragile x syndrome
Fragile x syndrome – Sex-linked Recessive
 2. Karyotype Analysis

Classification of Chromosomes according to

Centromeric Position
1. Metacentric- centromeres in the middle of the chromosome
2. Submetacentric - with centromeres slightly offcenter
3. Acrocentric- have centromeres almost at the ends
4. Telocentric - have terminal centromeres.
 Human Chromosomes Grouped According to Size

___________________________________________________________
Group Chromosome Size Centromere Location
____________________________________________________________

A 1,2 and 3 large approximately median

B 4 and 5 large submedian
C 6- 12 and X medium submedian
D 13, 14 and 15 medium acrocentric
E 16, 17 and 18 short/ medium median/submedian
F 19 and 20 short approximately median
G 21, 22 and Y very short acrocentric
___________________________________________________________
Chromosomal Aberrations in Man
______________________________________________________________

Type of Disorder Chromosome Composition Outstanding

And Number Characteristics
______________________________________________________________
1. Autosomes

a. Down’s Syndrome 22II + I21+ XX or XY mental retardation, slanting eyes,

(2n=47) Mongolian eyelid fold, saddle
nose, swollen tongue
b. Patau’s Syndrome 22II+ I13+ XX or XY harelip/cleft palate, serious
(2n=47) cerebral, ocular and cardiovas-
cular defects
c. Edward’s Syndrome 22II+I18+XX or XY malformations in every
(2n=47) organ system
2. Sex Chromosomes

a. Turner’s Syndrome 22II+ X0 sexual infantilism, mental

(2n=45) retardation
b. Metafemale 22II+XXX mental retardation, premature
(2n=47) menopause
c. Klinefelter’s 22II+XXY underdevelopment in males,
(2n=47) sterility, mental retardation
d. Double Y Syndrome 22II+XYY antisocialism, aggressiveness,
(2n=47) criminal tendencies, low IQ
 INHERITED HUMAN TRAITS

Widow’s Peak

Straight hairline
• Bent little finger-a dominant trait
Unattached Attached ear
ear lobes are lobes are
inherited as a inherited as a
dominant recessive
trait. trait.
Inherited Human Traits
 Quantitative Traits
• Mendel worked with traits that were all discrete, either/or traits:
yellow or green, round or wrinkled, etc. Different alleles gave clearly
distinguishable phenotypes.

• However, many traits don’t fall into discrete categories: height, for
example, or yield of corn per acre. These are “quantitative traits”.

• The manipulation of quantitative traits has allowed major increases

in crop yield during the past 80 years. This is an important part of
why today famine is rare, a product of political instability rather than
a real shortage of food. Until very recently, crop improvement
through quantitative genetics was the most profitable aspect of
genetics.
 Types of Quantitative Trait
• The distribution of quantitative traits values in a population follows the normal
distribution (also known as Gaussian distribution or bell curve). These curves are
characterized by the mean (mid-point) and by the variance (width). Often standard
deviation, the square root of variance, is used as a measure of the curve’s width.

• 1. continuous trait: can take on any value: height, for example.

• 2. countable (meristic) can take on integer values only: number of bristles, for
example.
• 3. threshold trait: has an underlying quantitative distribution, but the trait only appears
only if a threshold is crossed.
The basic tenet of quantitative genetics: the variation seen in quantitative
traits is due to a combination of many genes each contributing a small
amount, plus environmental factors plus the interaction between them
Quantitative Inheritance-polygenic inheritance

A result of more than one gene contributing to phenotype

 Quantitative Traits are Caused by Mendelian
Genes
• In 1909 Herman Nilsson-Ehle from Sweden did a series of experiments with kernel color in wheat.

• Wheat is a hexaploid, the result of 3 different species producing a stable hybrid, an allopolyploid. There are
thus 3 similar but slightly different genomes contained in the wheat genome, called A, B, and D.

• Each genome has a single gene that affects kernel color, and each of these loci has a red allele and a white
allele. We will call the red alleles A, B, and D, and the white alleles a, b, and d.

• Inheritance of these alleles is partially dominant, or “additive”. The amount of red pigment in the kernel is
proportional to the number of red alleles present, from 0 to 6.
 • Eye color appears to vary
on an almost continuous
scale from brown to green
to gray to blue

• Eye color is determined by

two genes, one controls
texture of the iris which
refracts light to make blue.
A second determines
relative abundance of
melanin. When a small
amount of melanin is
present, green eyes result
while brown and black eyes
result from relatively
increasing amounts of
melanin

• Thus hair color appears to

vary on an almost
• Eye and hair colors are determined by more continuous scale from
black to brown to blond to
than one gene red
• The brown and black
pigment is melanin
• The red pigment is an iron
containing molecule
 Student Activity

• Perform Lab Exercise in Human Genetics