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Chromosome abnormalities
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Single Gene Abnormalities
Due to a mutation involving a single gene
Mutant allele may be recessive or dominant
Found on the autosomal chromosomes or on
sex chromosomes
Heritable
Patterns of inheritance in a family can be
studied by using pedigree charts:
Dominant traits - tend to occur in members of every generation
Recessive traits - may remain hidden for generations before
showing itself
Autosomal traits – occur in both males and females
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Inheritance of autosomal Dominant
traits
3
Inherritance of Autosomal Recessive
traits
4
Inherritance of X-linked
Recessive traits
Affected males transmit the trait to all of their daughters but not
their sons (male-to-male transmission does not occur).
Affected heterozygous females transmit the condition to 1/2 of
their children, regardless of sex.
Affected homozygous females transmit the trait to all of their
children.
Twice as many affected females as males will have the disorder
Chromosome Abnormalities
Due to deviations in chromosome number
Not heritable
Cause: due to non disjunction of chromosomes
during meiosis - failure of homologous
chromosomes to separate
One daughter cell will receive both chromosomes of
one type while the other will receive no chromosomes
of that type
More likely to occur in the offspring of older
mothers
Chromosomes that fail to separate could be an
autosome or a sex chromosome
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Aneuploidy
Non-disjunction can occur with a single
pair of chromosomes
Form gametes that have 2 chromosome of a
particular chromosome and the other having none
If a gamete with both pairs of a particular chromosome
fertilise with a more typical haploid gamete – form zygotes
with three chromosomes – Trisomic
If a gamete without any chromosomes of a particular type
fertilise with a more typical haploid gamete - a zygote with
only one chromosome - Monosomic
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Euploidy
Non-disjunction
can occur with
whole chromosome sets
Form gametes that have one extra set
of haploid number of chromosomes
and others that have no chromosomes
Basic number of chromosomes in the
zygote is increased or decreased by
the exact multiple of the haploid
number of chromosomes (2n +/- n) :
Euploidy
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Disorders due to Aneuploidy in
Autosomes
Klinefelter’s syndrome
XXY - When an ovum with two X chromosomes is fertilised by a normal
sperm
Have a total of 47 chromosomes
Occur in about 1 in 500 births.
Symptoms
Male but has underdeveloped testes Sterile
Poorly developed secondary sexual characteristics
Partially developed breasts and somewhat feminine musculature
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Detection and treatment of
genetic abnormalities
Gene therapy
Introducing a genetically engineered gene
to correct a copy of a defective gene
Carrier Recognition
Identifying persons carrying
alleles for a particular genetic
trait
May be identified by:
Simple blood tests and other
chemical tests
Sometimes even by DNA probes
By pedigree charts to predict the
presence of a particular genetic trait
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Prenatal Testing
Amniocentesis:
A needle inserted through abdominal
wall to withdraw a sample of amniotic
fluid
Usually done between the 14th – 16th
week of pregnancy
Foetal cells in the fluid are cultured
and karyotyped
Takes about 4 weeks to give the result
Risk to the foetus is low - about 0.5%
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