NCERT Flashcards
types of mutation
eg
frame shift mutation : (deletion) or gain (duplication or insertion) of DNA segment
point mutation : change in sibgle bp of dna
eg - sickle cell anemia
chromosomal aberrations are commonly observed in
cancer cells
___ aberrations are commonly observed in cancer cells
chromosomal
mutagens
eg
chemical and physical factors that induce mutation
eg: uv radiation
chemical and physical factors that induce mutation are called ___
mutagens
NOTE
dna is the carrier of genetic info
ot is transmitted from one generation to another without any change or alteration
pedigree analysis
use
analysis of traits in several generations of a family, represented using a family tree
used to trace inheritance of specific trait, abnormality or disease
cystic fibrosis is a ___ disorder
mendelian
mendelian disorder?
eg?
alternation or mutation in a single gene
haemophilia, sickle cell anemia, cystic fibrosis, phenylketonuria, thalassemia, colour blindness
sex linked mendelian disorders
haemophilia
colour blindness
colour blindness reason and cause?
which sex chromosome is affected?
% in male and female
reason: defect in red and green cone of eye
cause: failure to differentiate btw red and green colours
some genes of X chromosome are affected
male: 8%
female: 0.4%
condition for colour blind son and daughter
colour blind son:
⬛mother X❌ and father XY
⬛mother is not colour blind as the X is the dominant normal gene
⬛son has 50% chance to be colour blind
colour blind daughter:
⬛mother X❌ and father ❌Y
⬛ daughter is colour blind
haemophilia reason and cause?
which sex chromosome is affected?
affect on me and female?
waa found in the pedigree of?
reason: single protein from a cascade of proteins involved in clotting of blood is affected
cause: simple cut = nonstop bleeding
x chromosome is affected
possibility of females becoming haemophilic is very rare
Queen Victoria
Queen Victoria was a carrier of
haemophilia
🟦 in pedigree analysis
male
