1. DIAGNOSIS OF GENETIC
DISORDERS & INFECTIOUS
DISEASES
Presentation by S.Prasanth Kumar

2. PLAN
Autosomal Dominant
Autosomal Recessive
X-linked Dominant
X-linked Recessive
Y-linkage
Bacterial Diseases
Viral Diseases

3. AUTOSOMAL DOMINANT
Scenario

4. Huntington's
disease

5. MOLECULAR BIOLOGY

6. Pathway

7. A microscope image of a neuron
with inclusion (stained orange)
caused by HD,
Chemical structure of tetrabenazine
DIAGNOSIS
Psychological
Examination
CT, MRI
Genetic Testing
Neuroleptics ,
Benzodiazepines,
Amantadine or
Remacemide

8. AUTOSOMAL RECESSIVE
Scenario

9. Niemann–Pick
disease

10. Fatal inherited metabolic disorders that are included in the larger
Family of lysosomal storage diseases (LSDs)
MOLECULAR BIOLOGY

11. D
I
A
G
N
O
S
I
S
Organ transplant
Enzyme Replacement
Gene Therapy
CYCLO (2-hydroxypropyl-β-
cyclodextrin or HPBCD )

12. X-Linked Dominance
SCENARIO

13. Incontinentia
pigmenti

14. MOLECULAR BIOLOGY

15. DIAGNOSIS
Collaborative Skin Biopsy
Genetic Counseling,
Prenatal Testing,
Preimplantation Genetic
Diagnosis

16. X- linked Recessive
SCENARIO

17. Color
Blindness

18. Rainbow Color

19. No color deficiencies
Protanopia
Deuteranopia
Tritanopia

20. DIAGNOSIS
Ishihara color test
"74" Normal color vision.
“21“ Dichromacy or Anomalous Trichromacy
Not See Numbers Achromatopsia

21. Y- linkage
No Interchromosomal
Genetic Recombination

22. Male
Infertility

23. The most common cause of male infertility is a varicocele
(say: "var-ee-koh-seal").
This is when the veins in the scrotum (the skin "sack" that hangs
beneath the penis) are dilated (enlarged) on 1 or both sides. This
heats the inside of the scrotum and may affect sperm production.
 Low sperm count
 Sperm that are abnormally shaped or that don't move
correctly
 Undescended testicle
 An underlying medical problem
CAUSES

24. DIAGNOSIS
Semen
Analysis
Genetic
Counselling
Encouraged
for IVF

25. Bacterial Diseases

26. Miliary tuberculosis

27. Miliary tuberculosis is characterized by a chronic, contagious
bacterial infection caused by Mycobacterium tuberculosis that has
spread to other organs of the body by the blood or lymph system.

28. Tests include chest x-ray, sputum
culture,bronchoscopy,TB skin test, open
lung biopsy, head CT/MRI,
blood cultures, and electrocardiography
Isoniazid and Rifampicin for six months,
Ethambutol and Pyrazinamide for the
first two months
DIAGNOSIS

29. VIRAL DISEASES

30. The feline leukemia virus (FeLV)
The causative agent of the most important fatal infectious disease
complex of American domestic cats
Belonging to the family Retroviridae
Individual particles of FeLV consist of two distinct morphologic (structural)
components:
1. A dense inner core, or nucleoid, and
2. An outer envelope containing an immunologically important protein
known as ~V70.
(Principal antigen present on the virus surface)
A second major antigen of the FeLV particle is the protein p27, which is a
structural component of the inner viral core

31. DIAGNOSIS
FeLV blood tests
Enzyme-linked immunosorbent
assay (ELISA)
Immunotluorescence assay (IFA)
Both tests detect the p27 protein
of FeLV as it circulates in the
bloodstream, either free in the
blood (ELISA test) or within
infected white blood cells
(IFA test).

32. FOR YOUR ATTENTION