Bacterial Genetic

Question 1

Phenotype

Answer 1

Phenotype is the physical expression of genotype in a given environment ,united by the genotype ,temporarily and not hereditary

Typhoidbacillus is normally flagellated but when grown in phenol agar the flagella is not synthesised

Question 2

Genotype

Answer 2

Sum total of all the genes that makeup genetic apparatus of a cell
Complete potential of the cell which may or maybe expressed in given condition

Question 3

Von gierkes disease

Answer 3

Autosomal recessive disorder
Absence of glucose 6 phosphates
Hypoglycaemia
Due to excess of glycogen
Fat mobilisation and hyper lipoproteinemia
Hyperurecemia and accumulations of lactose and Peru ate

In infancy stunted growth and helatomegaly
Intracytoplasmic and intranuclear accumulation of glycogen
even tubular cells of kidney

Other fears include cutaneous ax Thomas and bleeding tendencies due to platelets distinction

Question 4

Teratology and teratogens

Answer 4

Developmental abnormalities study in foetal life

Physical,chemical,biological,drugs that causes developmental anomalies are called asa teratogens

Question 5

What can teratogens do

Answer 5

Intrauterine death
Intrauterine growth retardation
Functional malformation
Malformation

Teratogens depend
On the patients 
At what stage of intrauterine 
Dosage
Specificity of teratogens in production of developmental defect

Question 6

Developmental anomalies formed by teratogens

Answer 6

Aplasia  = incomplete absence with rudiments present 
Agenesis= complete absence

Ectopic wrong location pancreas in stomach wall

Hypoplasia= incomplete development

Atresia= Holliow areas are not formed oesophageal atresia

Dysgraphia anomalies = unable to fuse spinal bifida

Question 7

Storage diseases

Answer 7

Inborn error of metabolism
Due to genetic defect in the metabolism of carbs fat and protein
Intracellular accumulation
Lysosomes are site of intracellular digestion
Lysosomes are more in reticule endothelial system
So liver and spleen are there

They may autosomal recessive or sex linked recessive genetic transmission

Question 8

Glycogen storage diseases

Answer 8

Von gierkes disease 
Pompes
Cories 
Anderson’s 
Mcardles
Hers 
7
8

Question 9

Von gierkes

Answer 9

Glucose 6 phosphates
Liver and kidney involvement
Glycogen accumulation

Question 10

Pompes disease

Answer 10

Acid Maltese deficiency
Glycogen accumulation
Heart and muscle

Question 11

Cori s diseses type 3

Answer 11

Amyloglycosidase deficiency debrancher
Limit dextrin i accumulation
Heart and skeletal muscle

Question 12

Type 4 and Anderson’s disease

Answer 12

Brancher amylotransglycosidase is deficient

Brain heart skeletal muscle and liver is involved

Amylopectin accumulation

Question 13

Mcardles

Answer 13

Muscle phosphorylase deficiency

Muscle is involved
Glycogen accumulation

Question 14

Hers type6

Answer 14

Liver phosphorylase

Liver involvement and glycogen accumulation

Question 15

Type7

Answer 15

Phosphofructokinase deficiency

Glycogen accumulation
Muscle is involved

Question 16

Type 8

Answer 16

Phosphorylase kinase

Glycogen accumulation
Liver is involved

Question 17

Gaucher’s disease

autosomal recessive disorder

Answer 17

Acid beta glycosidase
It normally cleaves glucose from the ceramide
Lysosomal accumulation of glucocereboside
they accumulates in neutrons and some parts also

Type 1 classical type storage of glucocerebroside in the phagocytise cells of body in the organs like liver spleen bone marrow not involvement of cns

Type 2 progressive involvement of cns

Type 3 intermidiate of type 1 and type2 have both cns and body organs

Microscopy

Distended and enlarged cells found in spleen liver bone marrow

Cytoplasm is crumpled tissue like

Positive with pas ,oil red o, Prussian blue reaction indicating nature of accumulation material