483 Lecture Notes - Lecture 6: Model Organism, Meiosis, Thymine
LECTURE 6 Introduction to genetics
Mendel in a “pea shell.”
• Mendel studied inheritance in peas • Crossed true-breeding plants, look at several traits
• Law of segregation –2 alleles, one from each parent –Homozygous or heterozygous –
Dominant or recessive alleles
• Law of independent assortment –Alleles from different genes assort independently
two alleles in diploids control modern genetics Traits
• Alleles occur on homologous chromosomes at a specific location (locus)
autosomes & allosomes
• So far we have talked about genes on the autosomes • What happens when
is located on
chromosomes (allosomes)?
• Sex‐linkage was not observed in Mendel’s experiments –Traits studied were not sex‐linked
• Sex‐linkage is not consistent with Mendel’s principles of inheritance –Genes on sex
chromosomes (X and Y) are inherited differently in males and females
sex‐linked genes
• Sex‐linked genes were first observed in Drosophila melanogaster by T.H. Morgan.
• White‐eye (w) is a recessive trait in Drosophila. However, the white‐eye phenotype was not
expressed in the expected proportions in male flies.
genes on the x‐chromosome A few examples:
• A gene for a blood clotting protein – recessive condition causes hemophilia
• A gene for a muscle protein –recessive condition causes Duchenne muscular dystrophy
• A gene for an eye pigment protein – recessive condition causes colour blindness
genes on the x‐chromosome Recessive X‐linked traits are more common in males
female XA XA = no disease XA Xa = no disease, carrier Xa Xa = disease male
XA Y = no disease Xa Y = disease
XA = dominant allele Xa = recessive allele
The most common X‐linked disorder in humans
female XA XA = homozygous standard XA Xa = heterozygous carrier Xa Xa = homozygous
colourblind
XA Y = hemizygous normal Xa Y = hemizygous colourblind
genes on the x‐chromosome red‐green colour blindness
Ishihara Colour Test See 74: normal colour vision
See 21: then may have dichromacy or anomalous trichromacy.
See no number at all: may suffer achromatopsia: complete blindness to colour.
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Document Summary
Mendel in a pea shell. : mendel studied inheritance in peas crossed true-breeding plants, look at several traits, law of segregation 2 alleles, one from each parent homozygous or heterozygous . Morgan: white eye (w) is a recessive trait in drosophila. However, the white eye phenotype was not genes on the x chromosome a few examples: genes on the x chromosome recessive x linked traits are more common in males. The most common x linked disorder in humans genes on the x chromosome red green colour blindness female xa xa = no disease xa xa = no disease, carrier xa xa = disease male. Xa y = no disease xa y = disease. Xa = dominant allele xa = recessive allele female xa xa = homozygous standard xa xa = heterozygous carrier xa xa = homozygous colourblind. Xa y = hemizygous normal xa y = hemizygous colourblind. Ishihara colour test see 74: normal colour vision.