Documente Academic
Documente Profesional
Documente Cultură
Inheritance
What is Genetic?
.
What is an Inheritance?
..it is how the traits, or characteristics, are passed on from
generation to generation
What is an Changeability?
..is to be capable to acquire new characteristic
quality of being changeable depends of genes and
environment
Law of Dominance
In the monohybrid cross (mating of
two organisms that differ in only one
characteristic), one version is
disappeared/inhibited
The Law of Segregation
During the formation of gametes (eggs or sperm),
the two members of gene pairs (alleles) segregate
(separate) from each other.
Half the gametes carry one allele, and the other half carry
the other allele.
Alleles for a trait are then "recombined" at fertilization,
producing the genotype for the traits of the offspring
The Law of Independent
Assortment
Alleles for different traits distribute/assort
independently of one another in the
Genetic Concepts
Genome
Collection of all genetic material of organism
Genetic Concepts
DNA is mutable and a variation in DNA
sequence at a specific place of gene (locus)
is called an allele
Single prevailing allele presents in the
majority of individuals is WILD type
Changed version of s gene is MUTANT
Given set of Alleles at a locus or cluster of
loci on a chromosome is HAPLOTYPE
Genetic Concepts
Diploid organisms contain 2 alleles of
each gene which set in homologous
chromosome. Those 2 alleles are one from
mother one from father.
Alleles can be identical homozygous (AA)
Alleles can be different heterozygous (Aa)
Sometimes they called as Carriers
Law of Dominance
in the first generation
after
Breeding of pure lines
one
of the characteristics of
parent is disappeared
Punnett squares
probability diagram illustrating the possible offspring
of a mating
P:
P:
BB
x bb
Gametes
G:
F1:
B B
b
F2:
Bb
Bb x
Bb
P:
YYRR
G:
YR
F1:
G:
yyrr
yr
YyRr
YR
F2:
9 (R-Y-)
1(rryy)
yr
:
yR
3 (rrY-)
yr
:
3 (R-yy) :
Ratio of
phenotypes
9 - (R-Y-)
3 - (rrY-)
3 - (R-yy)
1 (rryy)
From 16 organisms
9 have Both of traits Dominant
3 have the first is recessive & second
dominant
3 first dominant & second recessive
1 Both of traits recessive
Genetic Concepts
One pair of Homologous Chromosomes contain one
pair of gene alleles.
Gene for eye
color (blue eyes
- a)
Homologous pair
of chromosomes
are different with
alleles (A or a)
Gene for eye color
(brown eyes - A)
The gene for a particular inherited character resides at a
specific position Locus on homologous chromosome.
Chromosome
Dominance
P:
AA x aa
? x aa
P:
Aa x aa
1:1
Ratio: phenotype
Genotype
1:2:1
1:2:1
optimum
Reaction limit
inheritance
From Approximate 25000 human gene about 8% are implicated in
Autosomal inheritance
Autosomal inheritance depends on the genes set on the autosomes.
And inherits Male or Female individual equally.
Autosomal Dominant
Autosomal Recessive
Dominant inheritance
These individuals are called
Heterozygotes with one copy of the
altered gene they are affected
Recessive inheritance
Homozygotes must have two copies of the
altered gene to be affected
Parents, Sibs and offspring of the proband creares the First degree
Grandparents and grandchildren, uncles and aunts, nephews and nieces, and half-sibs
creates The Second Degree;
Pedigree analysis
Pedigree analysis
Mendelian patterns in human
inheritance
Widows peak
Attached earlobe
Classification of genetic
disorders
Single Gene Disorders
Alterations in
single genes
Male
Multifactorial diseases
Variants in
genes
+ environment
Chromosome disorders
Chromosomal
imbalance
(AD)
Autosomal recessive
(AR)
X-linked
(X)
Autosomal dominant
inheritance
Affected gene locus is located in autosomes and around 3700
disease are known
- Dominant inheritance is presented in
- Homozygous (AA) - the most severe form of disease
- Heterozygous (Aa) Less severe form of disease,
incomplete dominance or career.
Disease spectrum in heterozygous-carriers of mutation is broad,
from carrier to lethal.
Characterized by
50% or 100% of vertical transmission
both Male and Female are similarly affected
Incidence of autosomal dominant diseases is 7 in 1000
in case of mild phenotype the mutation is mostly inherited by one of
the parents
Autosomal dominant
inheritance
Autosomal dominant
inheritance
Parents
Gamet
es
offsprin
g
Affected
Affected
Unaffect
Autosomal dominant
inheritance
Clinical Patterns
Marfan syndrome
Achondroplasia
Huntington disease
Neurofibromatosis type 1
Cardiomyopathy (hypertrophic)
Skeletal dysplasia
Familial hypercholesterolemia
Familial Adenomatous Polyposis (FAP)
Prader-willi
Neurological diseases (ataxias, paraplegia, dystonia,
inherited dementia)
Familial cancer syndromes (breast, colon,
endocrinologically)
Autosomal dominant
inheritance
Marfan syndrome
variable expressivity between members of the same family as the
protein coded for has different functions within the body.
tall stature
with
elongated
thin limbs
and fingers;
high risk of
heart
defects.
Dislocated len
Expressivity
The severity of expression of the phenotype
Among the same disease-causing genotype
Variable Expressvity
Even the same kindred, two individuals
carrying the same pathological gene may
have some symptoms in common, but
others quite different depending the location
of start point of disease
Huntingtons disease
Neurofibromatosis type1
Characterized by changes in skin coloring
(pigmentation, pigmented lesions) and the growth of
multiple tumors along nerves, neurofibromas, caf au
lait macules in the skin, brain, and other parts of the
body.
Caused by Mutations in the NF1 gene
Incidence of one case among every 35,000 birth
Phenotype is expresses in adults with 100%, but
sometimes Disease characterized with different
penetrance affected by age and heterozygous
genotype from light pigmentic spots to severe form of
tumor disease.
Autosomal recessive
inheritance
Autosomal recessive disease occurs only in Homozygous
condition (when both allele are mutated) because in
heterozygote one normal dominant allele inhibit or
compensate the effect.
The people with heterozygous genotype are Carriers
P:
Parents
Autosomal recessive
inheritance
Sperm/Eggs
Unaffected
Unaffected
(carrier)
Unaffected
(carrier)
Affected
Autosomal recessive
inheritance
Autosomal recessive
inheritance
Currently, in human around 4000 autosomal recessive
diseases are known so far
Incidence of autosomal recessive diseases: 2.5 in 1,000
newborns
characterized by the wide range of phenotypic spectrum
Recessive Mutations are homozygous or compoundheterozygous
Carrier of heterozygous mutations are clinically unaffected
Parents of an affected child are usually healthy and are carriers
of a heterozygous mutation
Autosomal recessive
inheritance
Clinical Patterns
Congenital deafness
Batten Disease
Recessive blindness
Hemochromatosis - 1:400
X linked inheritance
In X linked inheritance the gene is
presented only X or Y chromosome
X linked inheritance
The males have only one X chromosome, therefore they are
hemizygous
Females can be heterozygous/careers
X-linked dominant
Males
Male
X-linked recessive
Males with an altered gene on the
X-chromosome are always affected
Male
Female
Y
Parents
Gametes
X
Mother
(Unaffected)
(Carrier)
At
conception
Daughter
Daughter
(Carrier)
Son
Son (Affecte
Haemophilia
Duchenne muscular dystrophy (DMD) (Becker BMD)
Fragile X syndrome
Fabry disease
Retinitis pigmentosa
Alport syndrome
Hunter syndrome
Ocular albinism
Adrenoleucodystrophy.
Hemophilia
Impairs the body's ability to control blood clotting, which is used to
stop bleeding when a blood vessel is broken.
Haemophilia A (clotting factor VIII deficiency) is the most common
form of the disorder, present in about 1 in 5,00010,000 male births.
aemophilia B(factor IX deficiency) occurs in around 1 in about
20,00034,000 male births
Effects of haemophilia
(a) Bleeding around elbow. (b) A retinal bleed. (c) Repeated bleeds into
joints produce severe arthritis.
Hemophilia
Baldness
Baldness is an autosomal trait and is apparently influenced by sex hormones after
people reach 30 years of age or older.
In men the gene is dominant, while in women it is recessive. A man needs only one
allele (B) for the baldness trait to be expressed, while a bald woman must be
homozygous for the trait (BB).
What are the probabilities for the children for a bald man and
woman with no history of baldness in the family?
Y-linked inheritance
Rett Syndrome
Rett syndrome is a rare x-linked dominant severe brain disorder
that mostly affects to females. Because it is lethal in hemizygous
males.
The males who survives with this syndrome usually have two X-cromosome
with 47XXY Klinefelter.
Mosaicism
Mosaicism is the presence in an individual or a
tissue that contains at least two cell lines with
genetically different from whole body
Useful links
http://anthro.palomar.edu/mendel/mendel_1.htm
http://www.nature.com/scitable/topicpage/mendelian-genetics-patterns
-of-inheritance-and-single-966