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Chapter 11
HUMAN GENETICS
BIO310 / Genetics / NHM
CHAPTER OVERVIEW
Vocabulary of
genetics
Basic concepts of
heredity
Genetic tools
Testcross
Mendelian Inheritance
Probability
Punnett square
First Law Second Law
BIO310 / Genetics / NHM
CHAPTER OVERVIEW
Sources of Dominant –recessive Multiple allele
genetic variation inheritance inheritance
Incomplete dominance Polygene inheritance
Pedigree analysis
Duplication
Inversion
Changes in
chromosomes structure Translocation
Deletion
LESSON OUTCOMES
At the end of this chapter, students should be ableto:
i) Defineterminologiesingenetics
ii) Describe and explainconceptsin genetics
iii) Describe and explainMendelianinheritance
iv) Describe and explaintypes of inheritance
v) Apply the genetic tools to predict the inheritance of
the traits.
vi) Describe abnormalities in chromosome number
and alteration in chromosome structure.
BIO310 / Genetics / NHM
BIO310 / Genetics / NHM
Dominant? SELF-CHECK
3:1?
Heterozygous?
HEREDITY
Growth and development of a new individual is guided by
the gene-bearing chromosomes receives from its parents in
egg and sperm.
Individual genes, or DNA segments contain “recipes” or
genetic blueprints for protein synthesis body’s molecule.
Genes ultimately expressed in your hair color, sex, blood
type, etc.
VOCABULARY OF GENETICS
Eye color, blood type, Blue eyes, green eyes. (Eye color)
Examples A B O
skin color. I I I (Blood type)
GENOTYPE VS PHENOTYPE
BIO310 / Genetics / NHM
Basic Concepts of Heredity (3)
Genotype
Inherited alleles
Genetic constitution of an individual, a single gene pair
Phenotype
Observable functional or physical traits
Homozygous condition: identical alleles (BB) (bb)
Heterozygous condition: different alleles (Bb)
DOMINANT VS RECESSIVE
HOMOZYGOUS VS HETEROZYGOUS
BIO310 / Genetics / NHM
Basic Concepts of Heredity (2)
Dominant allele
Dominat allele masks the expression of the other in
influencing some trait.
Effect masks recessive allele paired with it
Recessive = allele that causes a phenotype that is only seen
in a homozygous genotype
Genetic representations
Homozygous dominant (AA)
Homozygous recessive (aa)
Heterozygous (Aa)
Initial
chromosome
alignments
(at metaphase I):
a.Initial chromo-
some alignments
(at metaphase I):
b.The
resulting
alignments at
metaphase II:
c Possible
combinations
of alleles in
gametes:
AB ab Ab aB
CcDd CcDd
meiosis, meiosis,
gamete formation gamete formation
2.Crossover of homologues
Gamete variation results from the crossing over
and exchange of chromosomal parts during
meiosis I.
During meiosis, chromosome can break and
precisely exchange gene segments with their
homologous counterparts recombinant
chromosomes.
When chromatids segregate, each gamete will
receive a unique combination of parental
genes. In general all four of the tetrad may take
part in crossing over.
TESTCROSS
PUNNETT SQUARE
BIO310 / Genetics / NHM
A Testcross Also Can Reveal Genotypes
Testcross
Cross between an organism whose genotype is unknown
with an organism that is homozygous recessive so the
unknown genotype can be determined from that of the
offspring
Cross organism with homozygous
recessive organism (pp)
If all offspring are Pp,parent
was probably PP
If some of the offspring have
the dominant trait and some
have the recessive trait, parent
was Pp
BIO310 / Genetics / NHM
Probability
Measure of the chance that some particular
outcome will occur.
Factor in the inheritance of single-gene traits.
Cross BB x bb ?
All of the offspring will be heterozygous, Bb
Cross Bb x Bb
¼ BB,½ Bb, and ¼ bb
Punnett square
Grid used to determine possible outcomes of genetic
crosses
Possibility can be expressed mathematically (0%, 100%)
Mostprobable outcome does not have to occur
Cross Bbx Bb
MENDELIAN
INHERITANCE
Fathers of modern genetics
Pod
Recall:
Flower morphology
Dominant :Yellow
Recessive : Green
F1 generation??
F2 generation??
Dihybrid
GGYY X ggyy (Two traits)
• Pod color
• Seed color
In this cross, the traits for green pod color (GG) and
yellow seed color (YY) are dominant. Yellow pod color
(gg) and green seed color (yy) are recessive.
GGYY X ggyy
F2 generation??
Self pollinate
F1 plant
He noticed:
9 of the F2 plants had
green pods and yellow
seeds,
3 had green pods and
green seeds,
3 had yellow pods and
yellow seedsand
1 had a yellow pod and
green seeds.
9:3:3:1 ratio. BIO310 / Genetics / NHM
Mendel's Law of Independent Assortment
3:1?
Heterozygous?
Sex-linked
Codominance
inheritance
A. Here the phenotype for the dominant B. College basketball stars Haris C. These mens have
allele (red) is expressed in thecarriers. Charalambous, who died when his aorta
burst during warmup exercises. He was achondroplasia.
very tall and lanky, with long arms and (autosomal dominant)
legs,traits there associated with Marfan
syndrome. (autosomal dominant)
BIO310 / Genetics / NHM
AUTOSOMAL RECESSIVE
An autosomal recessive disorder means two copies of an
abnormal gene must be present in order for the disease or
trait to develop.
1.Albinism:
• reduced or lack of pigment that
normally gives color to theskin, hair,
and eyes.
2.Thalassemia:
• forms of inheritedautosomal
recessive blood disorders.
• abnormal formation of haemoglobin,
results in improper oxygen transport
and destruction ofred blood cells
BIO310 / Genetics / NHM
Autosomal recessive
IA, IB, IO
The alleles determine the type of polysaccharide on the
cell surface membrane of erythrocytes that functions as
antigens.
PEDIGREE ANALYSIS
Pedigree analysis
Use chart called pedigree to display family relationships
and to depict which relatives have specific phenotypes and
sometimes genotypes.
Pedigrees are important both for helping families identify the
risk of transmitting an inherited illness.
CHANGESIN
CHROMOSOME
STRUCTURE&NUMBER
• Duplication
• Inversion
• Translocation
• Deletion
• Nondisjunction
BIO310 / Genetics/ NHM
Changes in chromosome structure
1) Duplication
When normal chromosomes have gene sequences that
2) Inversion
a linear stretch of DNA within a chromosome
3) Translocation
involves the re-attachment of brokenchromosomes
to non-homologous chromosomes.
Normally, most translocations are reciprocal. (both
4) Deletion
caused by viral attacks, irradiation, chemical assaults
4) Deletion
Disorder: Cri du chat syndrome orcat cry syndrome
Deletion ofDNA on small arm of chromosome 5.
Symptoms: high-pitched cat-like cry, mentalretardation,
delayed development, etc.
Non-disjunction
Occasional mishaps, called non-disjunction occur in which the members
of a pair of homologous chromosomes do not move apart properly
during meiosis I or II.
One gamete receives 2 of their same type chromosome, another
receives no copy.
Non-disjunction
Non-disjunction
Nondisjunction of sex chromosomes produces a variety of aneuploid
conditions.
Monosomy [ n – 1 ] + [ n ] = 2n – 1
Turner syndrome (45, XO)
Single Xchromosome
Phenotypically female
Physically short, sterile, had folds of
skin, had malformed elbows,
sexually underdeveloped.
99% of affected fetuses are not
born.
Trisomy [ n + 1 ] + [ n ] = 2n + 1
Klinefelter syndrome (47, XXY)
More than one Xchromosome.
Male genitalia
Male phenotype but small testes, small penis,breast
enlargement, absence of sperm in ejaculation,sterile.
Low testosterone, high estradiol
Supermale (XYY)
47, XYY
Do not exhibit well-defined syndrome
Normal male, increase height
Reduce sperm production
3:1?
Heterozygous?