GENES,
PROTEINS AND
PHENOTYPES
Presented by Amartuvshin and Khasar
Table of contents
01 02 03
TYR Gene, HBB gene,
F8 gene, factor VIII
tyrosinase and haemoglobin and
and haemophelia
albinism sickle cell anaemia
04 05
HTT Gene, huntigtin and Le gene,
Huntington’s disease gibberellin and
stem elongation
TYR gene
Albinism causes melanin, the dark pigment in your skin, eyes, or hair
to be lost to a certain extent.
Pale skin and hair, pale blue or pink iris, the pupil appears red.
Poor vision, rapid and jerky movements of the eyes, tendency to
avoid bright lights.
TYR gene is located in the long arms of CHROMOSOME 11.
Caused by a faulty homozygous recessive allele. 1 in 17000 chance.
The recessive allele of the gene results in either inactive or absence
of the tyrosinase enzyme.
Tyrosinases occur in plants as well. It causes the blackening potato
when exposed to air.
HBB Gene
HBB codes for the amino acid sequence of beta-globin
peptide in haemoglobin.
Found on the short arm of chromosome 11.
This causes the haemoglobin molecules much less soluble
and more fibrous within the RBCs. They change into a
sickle-cell shape, becoming useless in transporting
oxygen. They also get stuck in small capillaries
A person with one normal HBB allele and one of sickle cell
allele, will have some sickele celled haemoglobin.
F8 gene and
haemophillia
The F8 gene contains code for synthesising a
protein called coagulation factor VIII.
It is synthesised in liver cells and is secreted into
the blood stream and plays an important role
during blood clotting.
Abnormal alleles of this gene results in abnormal,
less or no factor VIII at all. This causes excessive
bleeding after small injuries. This is called
haemophillia.
Found in non- homologous region of X
chromosome. Sex-linked gene.
HTT gene
HTT codes for the production of huntingtin.
A large number of CAG triplets (stutter)
>40 stutters, 100% of Huntington’s
36-39 stutters, sometimes Huntington’s
Lose ability to control movements, talk, or
think clearly
Dominant allele
Le gene
Le le
Regulates the synthesis of the Has one nucleotide that differs
last enzyme in a pathway that from the normal allele.
produces active gibberellin, GA. Codes for alanine instead of
GA stimulates cell division and threonine in primary structure of
cell elongation in stem. enzyme near its active site,
producing non-functional
enzyme.
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