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Patterns of Inheritance
by:
Katrina Issa A. Gelaga, RN, MN
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Why do some people inherit patterns that will
display dangerous disease symptoms, such as
those seen in cystic fibrosis?
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Cystic Fibrosis
also known as mucoviscidosis is an autosomalrecessivegenetic disorder that
affects most critically the lungs, and alsothepancreas, liver, and intestine.
CF is caused by a mutation in the gene forthe proteincystic fibrosis transmembraneconductance regulator (CFTR). This protein is required to regulate the components of
sweat, digestive fluids, and mucus
CF is most common among Caucasians; 4% ofpeople of European descent carries one allele forCF
http://en.wikipedia.org/wiki/Autosomalhttp://en.wikipedia.org/wiki/Recessivehttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Pancreashttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Pancreashttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Mutationhttp://en.wikipedia.org/wiki/Genehttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Digestionhttp://en.wikipedia.org/wiki/Mucushttp://en.wikipedia.org/wiki/Digestionhttp://en.wikipedia.org/wiki/Mucushttp://en.wikipedia.org/wiki/Caucasian_racehttp://en.wikipedia.org/wiki/Genetic_carrierhttp://en.wikipedia.org/wiki/Caucasian_racehttp://en.wikipedia.org/wiki/Allelehttp://en.wikipedia.org/wiki/Genetic_carrierhttp://en.wikipedia.org/wiki/Allelehttp://en.wikipedia.org/wiki/Allelehttp://en.wikipedia.org/wiki/Genetic_carrierhttp://en.wikipedia.org/wiki/Caucasian_racehttp://en.wikipedia.org/wiki/Mucushttp://en.wikipedia.org/wiki/Digestionhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Proteinhttp://en.wikipedia.org/wiki/Genehttp://en.wikipedia.org/wiki/Mutationhttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Pancreashttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Recessivehttp://en.wikipedia.org/wiki/Autosomal -
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The cornerstones of management are
proactive treatment ofairway infection, and
encouragement of good nutrition and an
active lifestyle.
Pulmonary rehabilitation
Intravenous, inhaled, and oral antibiotics
transplantation and gene therapy
http://en.wikipedia.org/wiki/Respiratory_tract_infectionhttp://en.wikipedia.org/wiki/Pulmonary_rehabilitationhttp://en.wikipedia.org/wiki/Intravenous_therapyhttp://en.wikipedia.org/wiki/Inhalationhttp://en.wikipedia.org/wiki/Organ_transplanthttp://en.wikipedia.org/wiki/Gene_therapyhttp://en.wikipedia.org/wiki/Gene_therapyhttp://en.wikipedia.org/wiki/Organ_transplanthttp://en.wikipedia.org/wiki/Inhalationhttp://en.wikipedia.org/wiki/Intravenous_therapyhttp://en.wikipedia.org/wiki/Intravenous_therapyhttp://en.wikipedia.org/wiki/Pulmonary_rehabilitationhttp://en.wikipedia.org/wiki/Respiratory_tract_infection -
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Chronic Granulomatous Diseases
Mucopolysaccaridosis Diseases
Phenlketonuria Turner's Syndrome
Celiac Disease
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Genetically Inherited Traits
1. Achoo Syndrome
2. Chin Cleft
3. Early Onset Myopia (Childhood Nearsightedness)
4. Bent Little Finger
5. Facial Dimples
6. Eye Color
7. Free Earlobe
8. Hand Clasping
9. Tongue Rolling
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Chin Cleft
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Bent Little Finger:
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Eye Color
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Free Earlobe
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Hand Clasping
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Tongue Rolling
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Universal Principles of Heredity
Blending model of heredity
Before Mendels discovery, people believed that
heredity was a blend of characteristics from
mother and father Particulate model of heredity
Mendel disproved the blending theory
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Reason he use Pea Plants
has variety of strains that showed clear
alternative forms of single traits
he can study inheritance of one feature
unconfused by all other variations
Can be control (self-fertilizes)
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In Mendels pea plant experiments, theparental (P1) generation was pure-bred
and self-fertilized (mated with itself)
In Cross-fertilization (deliberate crosses
between two organisms) the parentsresulted in the first filial (F1)generation The trait showing up in F1 generation was
dominant
The trait that did not show up was recessive
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The F1 generation was allowed to self-fertilize
The Filial (F2) generation resulted in a mix oftraits with the dominant trait showing up
more often than the recessive trait
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Mendels Experiment
Mendel began one of his first experiments by
cross-fertilizing long-stemmed and short-
stemmed pea plants.
An individual pea plant generally has two allelesfor each gene, with one allele on each member of
a homologous pair of chromosomes. The two
alleles for the gene for stem length are a long-stem allele, abbreviated as upper case L, and a
short-stem allele, abbreviated as lowercase l.
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The collection of alleles in an organism is its
genotype.
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Parents
F1
Long Short
All long
Mendel crossed long-and short-stem pea
plants
He got all long-stemmed
progeny in the F1generation
P1
Particulate Model of Heredity
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Long Long Long Short
F2
Self-fertilization
Particulate Model of Heredity
(a) Parents
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Fig. 5-1, p. 87
(c) F2Self-fertilization
(b) F1
Long Short
(a) Parents
All long
Long Long Long ShortStepped Art
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Rules Governing Inheritance of a Single Trait
Genes and alleles:Gene - influences a specific
trait in an organismAlleles - alternate forms of a
gene
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Rules Governing Inheritance of a Single Trait
Genes and alleles of the pea plant:
Gene: length of pea stem
Allele: The gene for the pea plant
has 2 alleles: one for short stems
and one for long stems
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Genes, Alleles, and Chromosomes
Stem length gene Flower color gene
Long-stem allele
Short-stem allele
Purple flower alleleWhile flower allele
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Rules Governing Inheritance of a Single Trait
Mendels Principle of Segregation: Part 1 - Segregation of Alleles: Pea Plants
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Rules Governing Inheritance of a Single Trait
1. A heredity trait is governed by agene
2. Genes reside on chromosomes3. A gene for each trait can exist in
two or more alternative forms
called alleles
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Rules Governing Inheritance of a Single Trait
4. Most higher organisms have two copies
of each gene in body cells (diploid), but
gametes (egg & sperm) have only
one copy of each gene (haploid)
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Rules Governing Inheritance of a Single Trait
5. Two chromosomes similar in size, shape,and genetic content are calledhomologous
6. A homozygote has two identicalalleles of a gene
A heterozygote has two differentalleles of a gene
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Rules Governing Inheritance of a Single Trait
7. A phenotype is the physicalappearance of an organism
whereas a genotype is thegenetic makeup of an organism
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Rules Governing Inheritance of a Single Trait
A pair of
homologous
chromosomes
Genotype:
Phenotype:
(c) Homozygous recessive
(two matching recessive alleles)
(b) Heterozygous
(nonmatching alleles)
(a) Homozygous dominant
(two matching dominant alleles)
Long Long Short
L L L l l l
Long-stem
allele
Long-stem
allele
Long-stem
allele
Short-stem
allele
Short-stem
allele
Short-stem
allele
(c) Homozygous recessive(b) Heterozygous(a) Homozygous dominant
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A pair of
homologous
chromosomes
(two matching recessive alleles)(nonmatching alleles)(two matching dominant alleles)
Fig. 5-3, p. 90
Phenotype: Long Long Short
Genotype: L L L l l l
Long-stem
alleleLong-stem
allele
Long-stem
alleleShort-stem
allele
Short-stem
allele
Short-stem
allele
Stepped Art
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Rules Governing Inheritance of a Single Trait
8. The dominant allele shows
the phenotype and the
recessive allele is hidden
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Rules Governing Inheritance of a Single Trait
9. Pairs of alleles separatebefore egg and sperm
formation (meiosis) Fertilization brings a single
gene from each parent so that
the progeny have two genes
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Rules Governing Inheritance of a Single Trait
10.Genes on different chromosomes
assort independently of each other
into gametes11.Linked genes lie on the same
chromosome and tend to be
packaged into gametes together