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Lecture Handout Genetics & Molecuar Biology Part II
Lecture Handout Genetics & Molecuar Biology Part II
&
MOLECULAR BIOLOGY
PART II
AGENDA
Pedigree analysis
Summary
References
Pedigree analysis….
What is Pedigree?
Pedigree analysis
Analysis of family tree to predict how the trait under study is inherited.
Mendelian traits, or single gene disorders, fall into 5 categories or modes of inheritance
based on:
3. X-linked recessive inheritance (the locus is on the X chromosome and both alleles
must be mutant alleles to express the phenotype in females)
4. X-linked dominant inheritance (the locus is on the X chromosome and only one
mutant allele is required for expression of the phenotype in females)
The mother is a carrier and The affected father passes the STS
each son has a 50% chance of mutation to his daughters, but his
being affected. Each daughter sons are unaffected.
has a 50% chance of being a
carrier.
http://confettiskin.com/wp/2013/01/24/x-linked-ichthyosis/
Inheritance of Human traits –
3. X-linked recessive inheritance (the locus is on the X chromosome and both alleles
must be mutant alleles to express the phenotype in females)
Affected males receive the mutant X-linked allele from their mother and
transmit it to all of their daughters, but not to their sons
– Daughters of affected males are usually heterozygous
– Sons of heterozygous females have a 50% chance of being affected
– Hemizygous males (only one X) and females homozygous for the allele are
affected.
Inheritance of Human traits –
4. X-linked dominant inheritance (the locus is on the X chromosome and only one
mutant allele is required for expression of the phenotype in females)
Mitochondria
–Cytoplasmic organelles that convert energy from food into ATP (ATP powers
cellular functions)
–Carry DNA for 37 mitochondrial genes
•Genetic disorders in mitochondrial DNA are associated with defects in energy
conversion
-- Mitochondria (and genetic disorders caused by mutations in mitochondrial
genes) are maternally inherited
•Mitochondria are transmitted from mothers to all their offspring through the
cytoplasm of the egg
Inheritance of Human traits – Brown Eyes
Eye color is inherited as a polygenic not as a
monogenic trait.
Offspring need to carry just one dominant allele from their parents to inherit the
polydactyl condition
Inheritance of Human traits –Diabetes insipidus,
Diabetes insipidus characterized by inability to concentrate the urine, which
results in polyuria (excessive urine production) and polydipsia (excessive thirst).
Sickle cell disease is caused by one specific mutation in the beta-globin chain
gene resulting in a substitution of valine for glutamic acid at the sixth position
of the beta-globin chain.
This leads to abnormalities in the morphology of the red blood cell (sickling)
under conditions of low oxygen tension.
Areas of Practice
Prenatal Genetics
Pediatric Genetics
Adult Genetics
Cancer Genetics
Metabolism Genetics
Disease Research
Diagnostic Laboratory
Support Groups
Public Health
Government
Genetic counselling
Eugenics, meaning "well born," was introduced in the 1880s by Sir Francis
Galton, a cousin of Charles Darwin and the father of modern statistics.
Galton pioneered the use of pedigrees, twin studies, and statistical
correlation for the purpose of using that knowledge to improve "the
breed of man.“
Positive eugenics
advocating the improvement of human genetic traits through the promotion of
higher reproduction of people with desired traits.
Negative eugenics
advocating the improvement of human genetic traits through the promotion
of reduced reproduction of people with less-desired or undesired traits
(negative eugenics).
summary
http://www.ncbi.nlm.nih.gov/books/NBK21977/
http://www.ncbi.nlm.nih.gov/books/NBK7573/
http://www.ncbi.nlm.nih.gov/books/NBK22090/
http://www.ncbi.nlm.nih.gov/books/NBK22079/
http://www.genesinlife.org/genetics-101/how-does-genetics-work/main-inheritance-patterns
http://www.in.gov/isdh/26078.html
http://www.newbornscreening.info/Pro/genetics.html
http://www.uvm.edu/~cgep/Education/Inheritance2.html
Thank you