Download Detection of different genes heredity

Human karyotype
Family history
Geneology in animal breeding
The goal:
Detection of different genes heredity
(animals with necessary traits)
Geneological method in
human genetic
The goal: detection of gene heredity
Some traits are controlled by a single gene with two alleles.
Many human traits are also controlled by a single gene with one
dominant allele and one recessive allele.
These human traits have two distinctly different phenotypes.
E10/I10 tau mutations.
RNA sequences for part of
E10 (A) and the E10/I10
junction (B) are shown
Tau mutation, Parkinson's disease
ahondroplasia 1:15 000 līdz 40 000
Polydactyly
4. chromosome
Dominant sex or X-linked trait
and schematic
representation
of the sickle
gene
codominant genes
Sickle-Cell Disease is a genetic disorder that affects the blood. People with
sickle-cell disease produce an abnormal form of hemoglobin, a protein in red
blood cells that carries oxygen. Sickle-shaped red blood cells cannot carry
as much oxygen as normal-shaped cells. The allele for the sickle-cell trait is
co-dominant with the normal allele and most common in people of African
ancestry.
Consanguineus marriage in Turkey
25%
Son: All family has
consanguineous marriages, why I
can’t !
Mother: Because we learnt our
lesson! There is many children with
Abnormalities, you are lucky!
Sami, say something to your son!
Father: Are you crazy my son?
What will you do if you marry
with your uncle….
Prof. F. Silan, Turkey, 2015
 USA - 1 from 3 000 white-skinned
1 no 17 000 dark-skinned.
Cystic fibrosis is a genetic
disorder in which the body
produces abnormally thick mucus in
the lungs and intestines. Bacteria
grow in the mucus and can cause
infections which can cause lung
damage. The mucus also makes it
difficult for digestion to occur.
 most common among people whose
ancestors are from Northern
Europe.
 Great Britain 1 from 377
 Asians 1 uz 90 000
CF is autosomal recessive inherited.
 It is known that all (more than 400)
gene mutation that causes CF
syndrome occurs in 7. chromosome.
 CF gene, ensure the protein
formation consisting of 1 480 amino
acids
 Is called CF transmembrane
Regulators (CFTR).
Now more appropriately called the complete androgen insensitivity
syndrome, this is a genetic disorder that makes XY fetuses insensitive
(unresponsive) to androgens (male hormones). Instead, they are born
looking externally like normal girls. Internally, there is a short blind-pouch
vagina and no uterus, fallopian tubes or ovaries. There are testes in the
abdomen or the inguinal canal.
Human karyotype
11
14
8
7
6
2
18
2
13
15
19
21
16
13
11
3
1
10
20
15
4
17
5
10
18
7
6
14
22
1
X
19
12
17
4
12
3
20
9
5
21
8
Y
9
RISK OF HAVING
A LIVEBORN
CHILD
WITH A
CHROMOSOMAL
ABNORMALITY