BIOL1003 Study Guide - Final Guide: Achondroplasia, Gregor Mendel, Abo Blood Group System

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16 May 2018
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Mendelian Genetics
Blending Inheritance
The belief that offspring carry a blend of characteristics from both parents.
Particulate Inheritance
Particulate inheritance phenotypic traits can be passed from generation to generation
through disrete partiles kow as gees, whih a keep their ailit to e epressed
while not always appearing in a descending generation.
Discovered by Mendelian genetics theorists, eg: Gregor Mendel (1822-1884).
Garden peas artificially crossed by transferring pollen with a brush from one flower to
another.
Self-pollination easily prevented by emasculating flower.
Mendel's Observations
The phenotype is determined by heritable factors (genes).
Alternate forms of genes are responsible for variation in inherited characters ("alleles").
For each character an organism inherits 2 genes, one from each parents (for diploid
organisms).
If two alternative forms of a gene are present, one is dominant and one is recessive.
The two genes for each character segregate during gamete production.
Law of Segregation the two alleles for each gene separate during gamete formation.
Law of Independent Assortment alleles of genes on non-homologous chromosomes assort
independently during gamete formation.
Mendel's 3:1 Ratio - if two F1 heterozygotes are crossed, 3 will show the dominant trait and 1
will show the recessive.
Recessive disorder in humans - albinism, phenylketonuira (PKU).
Dominant disorders in humans - achondroplastic dwarfism, Huntington disease.
In incomplete dominance, three distinct phenotypes are evident, i.e. the third phenotype in
which the expressed physical trait is a combination of the phenotypes of both alleles.
2 homozygous parents F1 offspring heterozygous for flower colour F2 offspring - 3
phenotypes in 1:2:1 ratio, eg: snapdragons.
Eg: Human blood groups - the ABO group shows dominant, recessive and codominant alleles -
A and B are codominant, and dominant to O.
Eg: Sickle cell anaemia - this new allele affects the structure of the rbcs giving them a "sickle"
shape.
o Heterozygotes who have one copy of the normal haemoglobin allele and one copy of the
sickled allele have some sickled cells and some normal cells.
o They are mildly anaemic but 1/4 of the children of two heterozygotes have severe anaemia.
Sex Chromosomes
The Y-chromosome - very few genes on the Y chromosome and most have some function in
sex-determination or male sexual development.
The X chromosome - contains 2000 of our 2500 genes. Most have important functions in both
sexes and have nothing to do with sex-determination.
Sex-Linked Inheritance
If a male has a damaged gene on his X chromosome, there is no second copy to provide
back-up (like females) and so he will be affected.
So X-linked recessive conditions will be much more common in males than females.
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