DIAGNOSIS OF GENETIC DISORDERS & INFECTIOUS

DISEASES

Presentation by S.Prasanth Kumar

PLAN

Autosomal Dominant

Autosomal Recessive

X-linked Dominant

X-linked Recessive

Y-linkage

Bacterial Diseases

Viral Diseases

AUTOSOMAL DOMINANT

Scenario

Huntington'sdisease

MOLECULAR BIOLOGY

Pathway

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

AUTOSOMAL RECESSIVE

Scenario

Niemann–Pick disease

Fatal inherited metabolic disorders that are included in the larger

Family of lysosomal storage diseases (LSDs)

MOLECULAR BIOLOGY

D

I

A

G

N

O

S

I

S

Organ transplant

Enzyme Replacement

Gene Therapy

CYCLO (2-hydroxypropyl-β-cyclodextrin or HPBCD )

X-Linked DominanceSCENARIO

Incontinentia pigmenti

MOLECULAR BIOLOGY

DIAGNOSIS

Collaborative Skin Biopsy

Genetic Counseling,

Prenatal Testing,

Preimplantation Genetic Diagnosis

X- linked Recessive

SCENARIO

ColorBlindness

Rainbow Color

No color deficiencies

Protanopia

Deuteranopia

Tritanopia

DIAGNOSIS

Ishihara color test

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

Y- linkage

No Interchromosomal

Genetic Recombination

Male Infertility

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

DIAGNOSIS

Semen Analysis

Genetic Counselling

Encouraged for IVF

Bacterial Diseases

Miliary tuberculosis

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.

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

VIRAL DISEASES

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

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).

FOR YOUR ATTENTION