Genetics

Question 1

What are human genetics

Answer 1

Human genetics deals with the study of individual genes and function in disease and their inheritance.

Question 2

What are genomics

Answer 2

This deals with entire genes of organism

Question 3

Branch dealing with developmental anomali is called

Answer 3

Teratology
Teratogens are physical ,biological,chemical,drugs that induce such birth defects.
Teratogens may cause following outcomes
Intrauterine death
Intrauterine growth retardation.
functional defects
Malformation

Question 4

On which factors does tetratogenz depend

Answer 4

Variable individual susceptibility to teratogen

Intrauterine stage at which the teratogens are exposed mostly 1 st trimester of pregnancy

Dose of teratogens
Specificity of developmental defect.

Question 5

Phocomelia is caused by?

Answer 5

Thalidomide is the drug given for sedation and mrng sickness is the cause for reduction in legs.

Question 6

What is hydantoin syndrome?

Answer 6

The children born to mothers under anti epileptic drugs (hydontoin) result in strange facial features and congenital heart problems

Question 7

What is the result of intake of alcohol in pregnancy?

Answer 7

Still birth
Growth retardation
Mental retardation
MisscArriages

Question 8

What is hutchinson triad?

Answer 8

Vertical transmission of syphills from mother to child is characteristic of
Intestinal keratitis
Sensineural deafness
Hutchinsons teeth

Question 9

Briefly describe abt effects of teratogens

Answer 9

They can causes 
Intrauterine death
Growth retardation 
Functional defects 
Malformations

Malformation may be first
Atresia complete lumen formation not occurred
Aplasia nly rudiment part is present
Agenesis cmpleteabsence
Hypoplasia incomplete development
Ectopic wrng place development
Dysgraphia anomalies fusion doesn’t occur

Can diseases 
Phocomelia
Spinal bifida
Foetal hydantoin
Alcohol syndrome 
Torch complex
Congenital syphillis

Question 10

What is cyto genetics

Answer 10

The branch of science dealing with human chromosomes abnormalities

Question 11

How chromosomes are studied

Answer 11

Usually chromosomes are studied in any nucleated cells but circulating lymphocytes are often used

They are studied by using colchicine to arrest at metaphase

Stain: Giemsa stain

Question 12

Karyotyping definition and how they are classified?

Answer 12

Photographic representation of stained chromosomes
Based on
Length
Place of centromere

They are 
metacentric (1-3,16,19 20)
Sub meta centric(4,5,17,18,6-12 and x )
Acrocentric (13 ,14 ,15,21,22,y)
Telocentrc ( not seen in humans)

Question 13

How genetic disorder are classified

Answer 13

① chromosomal disorder
.② single gene disorder
③ multifactorial

Question 14

Explain Angel man syndrome

Answer 14

Deletion of maternal chromosome
 uniparental disomy of paternal chromosome
Clinical features 
Seizures
Ataxia
Retardation 
Inappropriate laughs
 Happy puppets