Genetic disorders

Question 1

pedigree analysis

Answer 1

analysis of traits in several generations of a family

Question 2

mendelian disorders

Answer 2

alteration/mutation in single gene; point mutation

Question 3

colour blindness

Answer 3

defect in red/green cones; failure to differentiate red and green colour

Question 4

scenario for affected daughter

Answer 4

mother carrier and father affected; X’X’

Question 5

haemophilia

Answer 5

single protein from cascade of protein responsible for blood clotting affected

Question 6

effect of haemophilia

Answer 6

simple cut results in non stop bleeding

Question 7

Queen victoria disease

Answer 7

she was carrier; family line used as case study

Question 8

controlled by single pair

Answer 8

HbA Hbs

Question 9

carrier and affected haemophilia

Answer 9

HbAHbs, HBsHbs

Question 10

haemophilia defect caused by which defect

Answer 10

substitution of Glutamic acid glu by valine val at 6th codon of B chain of beta globin chain of haemoglobin

Question 11

effect on mutant haemoglobin

Answer 11

undergoes polymerization under low oxygen conditions, goes from biconcave to elongated spindle

Question 12

phenylketonuria

Answer 12

inborn error of metabolism, autosomal recessive trait

Question 13

effect of individual with phenylketonuria

Answer 13

lack enzyme converting phenylalanine to tyrosine

Question 14

result of phenylalanine hydroxylase absence

Answer 14

accumulation of converted phenylpyruvic acid; brain accumulation leads to retardation, excreted through kidneys