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Genetics Lecture 2

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13 views25 pages

Genetics Lecture 2

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zoya.malikzm6649
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Genetics Lecture 2

SEHRISH ABBAS
Multiple alleles

Many genes have more than two alleles (even though any one
diploid individual can only have at most two alleles for any gene),
such as the ABO blood groups in humans, which are an example of
multiple alleles.

Multiple alleles result from different mutations of the same gene.


Coat color in rabbits is determined by four alleles.

Human ABO blood types are determined by alleles A, B, and O. A and


B are codominants which are both dominant over O. The only
possible genotype for a type O person is OO
Epistasis

Epistasis is the term It was reported that a This ratio is 9:7


applied when one different phenotypic instead of the 9:3:3:1
gene interferes with ratio in sweet pea one would expect of a
the expression of than could be dihybrid cross
another (as in the explained by simple between
baldness). Mendelian inheritance. heterozygotes.

Of the two genes (C


and P), when either is
To get purple flowers
homozygous recessive
one must have both C
(cc or pp) that gene is
and P alleles present.
epistatic to (or hides)
the other.
Environment and Gene
Expression
Phenotypes are always affected by their environment.

In buttercup (Ranunculus peltatus), leaves below water-level are


finely divided and those above water-level are broad, floating,
photosynthetic leaf-like leaves.

Expression of phenotype is a result of interaction between genes


and environment.

Siamese cats and Himalayan rabbits both animals have dark


colored fur on their extremities.
This is caused by an allele that controls pigment production being
able only to function at the lower temperatures of those
extremities. Environment determines the phenotypic pattern of
expression.
Polygenic Inheritance

Polygenic inheritance is a pattern responsible for many features that seem simple on the
surface.

Many traits such as height, shape, weight, color, and metabolic rate are governed by the
cumulative effects of many genes.

Polygenic traits are not expressed as absolute or discrete characters, as was the case with
Mendel's pea plant traits.

Instead, polygenic traits are recognizable by their expression as a gradation of small


differences (a continuous variation).

The results form a bell shaped curve, with a mean value and extremes in either direction.
Cont.

Height in humans is a polygenic trait, as is color in wheat kernels.

Height in humans is not discontinuous.

If you line up the entire class a continuum of variation is evident, with an average
height and extremes in variation (very short (vertically challenged) and very tall
[vertically enhanced]).

Traits showing continuous variation are usually controlled by the additive effects of
two or more separate gene pairs.

This is an example of polygenic inheritance. The inheritance of each gene follows


Mendelian rules.
Cont.

Usually polygenic
traits are
distinguished by

3. Phenotypic
1. Traits are usually
2. Two or more gene expression of
quantified by
pairs contribute to polygenic traits
measurement rather
the phenotype. varies over a wide
than counting.
range.
Cont.
1. Height

2. Systemic Lupus
Erythematus

Human polygenic traits


3. Weight

include
4. Eye Color

5. Intelligence

6. Skin Color

7. Many forms of
behavior
Pleiotropy

Pleiotropy is the effect of a single gene on more than one


characteristic. Examples :

1) The "frizzle-trait" in chickens. The primary result of this gene is the


production of defective feathers.

Secondary results are both good and bad; good include increased
adaptation to warm temperatures, bad include increased metabolic
rate, decreased egg-laying, changes in heart, kidney and spleen.
Cont.

Cats that are white with blue eyes are often deaf.

Sickle-cell anemia is a human disease originating in


warm lowland tropical areas where malaria is common.

Sickle-celled individuals suffer from a number of


problems, all of which are pleiotropic effects of the
sickle-cell allele.
Human Allelic
Disorders (Recessive)
Albinism
the lack of pigmentation in skin, hair, and eyes, is also a Mendelian human trait.
Homozygous recessive (aa) individuals make no pigments, and so have face, hair, and
eyes that are white to yellow.

For heterozygous parents with normal pigmentation (Aa), two different types of gametes
may be produced: A or a.

From such a cross 1/4 of the children could be albinos.

The brown pigment melanin cannot be made by albinos.

Several mutations may cause albinism:


Cont.

the lack of one or another enzyme


along the melanin-producing pathway;
or 2) the inability of the enzyme to
enter the pigment cells and convert
the amino acid tyrosine into melanin.
Phenylketonuria (PKU)

Phenylketonuria (PKU) is recessively


inherited disorder whose sufferers
lacks the ability to synthesize an
enzyme to convert the amino acid
phenylalanine into tyrosine
Individuals homozygous recessive for
this allele have a buildup of
phenylalanine and abnormal
breakdown products in the urine and
blood.
Cont.

The breakdown products can be harmful to developing nervous systems and lead
to mental retardation.

1 in 15,000 infants suffers from this problem. PKU homozygotes are now routinely
tested for in most states.

If you look closely at a product containing Nutra-sweet artificial sweetener, you will
see a warning to PKU sufferers since phenylalanine is one of the amino acids in the
sweetener.
PKU sufferers are placed on a diet low in phenylalanine, enough for metabolic
needs but not enough to cause the buildup of harmful intermediates.
Tay-Sachs Disease

Tay-Sachs Disease is an autosomal recessive resulting in


degeneration of the nervous system.

Symptoms manifest after birth. Children homozygous recessives for


this allele rarely survive past five years of age.

Sufferers lack the ability to make the enzyme Nacetyl-


hexosaminidase, which breaks down the GM2 ganglioside lipid.

This lipid accumulates in lysosomes in brain cells, eventually killing


the brain cells.
Sickle-cell anemia

Sickle-cell anemia is an autosomal recessive.

Ninepercent of US blacks are heterozygous, while 0.2% are homozygous


recessive.

The recessive allele causes a single amino acid substitution in the beta
chains of hemoglobin.

When oxygen concentration is low, sickling of cells occurs.

Heterozygotes make enough "good beta-chain hemoglobin" that they do


not suffer as long as oxygen concentrations remain high, such as at
sealevel
Human Allelic Disorders
(Dominant)
AUTOSOMAL DOMINANTS ARE RARE, ALTHOUGH THEY ARE (BY
DEFINITION) MORE COMMONLY EXPRESSED.
Huntington's disease

Huntington's disease is an autosomal dominant resulting in


progressive destruction of brain cells.

If a parent has the disease, 50% of the children will have it (unless
that parent was homozygous dominant, in which case all children
would have the disease).

The disease usually does not manifest until after age 30, although
some instances of early onset phenomenon are reported among
individuals in their twenties.
Polydactly

Polydactly is the presence of a sixth


digit.

In modern times the extra finger has


been cut off at birth and individuals
do not know they carry this trait..

One of the wives of Henry VIII had an


extra finger. In certain southern
families the trait is also more
common.
The extra digit is rarely functional
and definitely causes problems
buying gloves, let alone fitting them
on during a murder trial.
Muscular dystrophy

Muscular dystrophy is a term encompassing a


variety of muscle wasting diseases. The most
common type, Duchenne Muscular Dystrophy
(DMD), affects cardiac and skeletal muscle, as
well as some mental functions. DMD is an X-
linked recessive occurring in 1 in 3500
newborns. Most sufferers die before their 20th
birthday

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