BIOL1003 Study Guide - Final Guide: Achondroplasia, Gregor Mendel, Abo Blood Group System
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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 disrete partiles kow as gees, whih a keep their ailit to e epressed
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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