Human Genetics

• Phenotype: observed physical and

functional traits (ciri)
• Genotype: complete set of genes and alleles
• Alleles: Different versions of homologous
genes ex. B and b
 Human genetics
• How are gametes made?
• How does chromosome behavior affect
inheritance of traits?
• Somatic cells are diploid.
• Gametes are haploid, with only one set of
chromosomes
 a SPERMATOGENESIS b OOGENESIS

spermatogonium oogonium

primary primary
spermatocyte oocyte

meiosis l

secondary secondary
spermatocyte oocyte
polar
body
meiosis ll

spermatids
polar bodies egg
(will be degraded)
 1st law - segregation of alleles

• Cells contain 2 copies (alleles) of each gene

• Alleles separate during gamete formation
(meiosis)
• Gametes carry only one copy of each gene
Punnett squares
•Homozygous: BB and bb
show parental
gametes •Heterozygous: Bb
and the genotypes
of next generation

Possible genotypes
and
their probabilities

Figure 19.2
 Law of Independent Assortment

• During gamete formation, genes for

different traits separate independently
into gametes
• Why? random alignment (kelurusan) of
homologues at Meiosis I
Chromosome behavior accounts for Mendel’s principles

Figure 9.17

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 Tetrad
A B a b
Crossing over
A B

a a B
b A b

Gametes

• Genes on the same chromosome tend to be

inherited together = linked genes
• Crossing over produces gametes with
recombinant chromosomes

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 VARIATIONS ON MENDEL’S PRINCIPLES
P GENERATION

Red White
Incomplete dominance RR rr

Gametes R r

• an offspring’s
phenotype is F1 GENERATION Pink
Rr

intermediate between
the phenotypes of its
1/ R 1/ r
2 2

parents Eggs
1/
2 R 1/
2 R Sperm
Red
1/ r 1/ r
2 RR 2

Pink Pink
F2 GENERATION
Rr rR
White
rr

Figure 9.12A

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 • Incomplete dominance in human
hypercholesterolemia
GENOTYPES:
HH Hh hh
Homozygous Heterozygous Homozygous
for ability to make for inability to make
LDL receptors LDL receptors

PHENOTYPES:

LDL

LDL
receptor

Cell

Normal Mild disease Severe disease

Figure 9.12B

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 Many genes have more than two alleles
in the population

Ex. three alleles for ABO blood type in humans

IA, IB, i

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Polygenic traits - A single trait may be influenced
by many genes

• Quantitative traits
skin color, height, eye color
Fraction of population

Skin pigmentation

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 Genetic traits in humans can be tracked
(diikuti) through family pedigrees (silsilah)

• The inheritance of many

human traits follows
Mendel’s principles and
the rules of probability

Figure 9.8A
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 • Family pedigrees are used to determine
patterns of inheritance and individual
genotypes

Dd Dd D_? D_?
Joshua Abigail John Hepzibah
Lambert Linnell Eddy Daggett

D_? dd Dd
Abigail Jonathan Elizabeth
Lambert Lambert Eddy

Dd Dd dd Dd Dd Dd dd

Female Male
Deaf
Hearing
Figure 9.8B

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 Inherited Genetic Disorders

• Most mutations Normal Normal

PARENTS Dd Dd
usually involve
recessive alleles D D
Eggs Sperm
DD
• Phenylketonuria, Normal
d d
PKU Dd Dd
OFFSPRING Normal Normal

• Tay-Sachs disease
(carrier) (carrier)

dd
• Cystic fibrosis Deaf

Figure 9.9A

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 • A few are caused by dominant alleles
– Examples: achondroplasia, Huntington’s disease

Figure 9.9B

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Sex-linked disorders affect mostly males

• Most sex-linked human

disorders are due to
recessive alleles
– Ex: hemophilia,
red-green color blindness
These traits appear mostly in males. Why? Figure 9.23A

– If a male receives a single X-linked recessive

allele from his mother, he will have the disorder;
while a female has to receive the allele from both
parents to be affected
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Pedigree Chart: Inheritance Pattern for an X-linked
Recessive Disease

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 • A high incidence of hemophilia has plagued the
royal families of Europe

Queen Albert
Victoria

Alice Louis

Alexandra Czar
Nicholas II
of Russia

Alexis
Figure 9.23B

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 Variations on Mendel’s Principles

• Codominance, multiple alleles

• Pleiotropy (satu faktor (gen) yang berpengaruh
terhadap lebih dari satu sifat (Gatner dkk.
1984).
• Polygenic traits (suatu sifat dikendalikan oleh
lebih dari satu gen),  tinggi & warna kulit
• Sex-linked genes
• Environmental effects

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 Accidents during meiosis can alter
chromosome number
• Abnormal
chromosome count Nondisjunction
in meiosis I
is a result of
nondisjunction
– homologous Normal
meiosis II
pairs fail to
separate
during Gametes
meiosis I
n+1 n+1 n–1 n–1
Number of chromosomes

Figure 8.21A

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 – Or sister chromatids fail to separate during
meiosis II

Normal
meiosis I

Nondisjunction
in meiosis II

Gametes

n+1 n–1 n n
Number of chromosomes Figure 8.21B

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• An extra chromosome 21 causes Down syndrome
• The chance of having a Down syndrome child goes up
with maternal age

Figure 8.20C

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Fetal testing can spot many inherited disorders
early in pregnancy

• Karyotyping and biochemical tests of fetal cells

can help people make reproductive decisions
– Fetal cells can be obtained through
amniocentesis

Amniotic
Centrifugation
Amniotic fluid
fluid withdrawn
Fluid

Fetus Fetal
(14-20 cells
weeks) Biochemical
tests
Placenta

Several
weeks later
Uterus Cervix Karyotyping
Figure 9.10A Cell culture

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 • Chorionic villus sampling is another procedure
that obtains fetal cells for karyotyping

Several hours
later

Fetus
(10-12
weeks)
Placenta
Suction Fetal cells Karyotyping
(from chorionic villi)

Some
Chorionic villi
biochemical
tests

Figure 9.10B

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 • Examination of the fetus with ultrasound is
another helpful technique

PGD - Preimplantation Genetic Diagnosis

genetic analysis of embryos from in vitro fertilization (IVF)
before inserting into womb Figure 9.10C, D

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 Genes and Behavior
• Mechanism
– Product from gene-specific proteins
– Proteins have specific functions leading to
phenotypes: hormones, enzymes, transport,
neurotransmitters

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