MLSBIO101 GENETIC DISORDER

Question 1

What disorder is the alteration or mutation in the single gene?

Answer 1

Mendelian Disorder

Question 2

What disorder is transmitted to the offspring?

Answer 2

Mendelian disorder

Question 3

What disorder can be traced in a family by the pedigree analysis?

Answer 3

Mendelian Disorder

Question 4

What analysis is used to trace mendelian disorders in a family?

Answer 4

Pedigree Analysis

Question 5

What are some of the examples of Mendelian disorders?

Answer 5

1. Haemophilia
2. Cystic fibrosis
3. Sickle cell anemia
4. Color blindness
5. PKU
6. Thalassemia

Question 6

What disorder is due to the absence or excess or abnormal arrangement of one or more chromosomes?

Answer 6

Chromosomal disorder

Question 7

What disorder is the failure of segregation of chromatids in cell division cycle which results in the game or loss of chromosomes?

Answer 7

Chromosomal Disorder

Question 8

What do you call the failure of segregation of chromatids in cell division cycle which results in the game or loss of a chromosome/s?

Answer 8

Aneuploidy

Question 9

What are some examples of Chromosomal Disorders?

Answer 9

1. Down’s Syndrome
2. Klinefelter’s Syndrome

Question 10

What are the two types of mendelian disorders?

Answer 10

1. Sex Linked
2. Autosomal

Question 11

What are the two examples of sex linked mendelian disorders?

Answer 11

1. Color Blindness
2. Hemophilia

Question 12

What are the three examples of autosomal mendelian disorders?

Answer 12

1. Sickle cell anemia
2. PKU
3. Thalassemia

Question 13

What disorder is unable to discriminate red and green colors? It is also sex linked (X linked recessive)

Answer 13

Color blindness

Question 14

What are the cause of color blindness?

Answer 14

Faulty Cones

Question 15

On what sex does color blindness occur more?

Answer 15

Male (8%)

(Female is 0.4%)

Question 16

What disorder is the nonstop bleeding due to one defected gene responsible for blood clotting? It is also sex linked (X-linked recessive)

Answer 16

Hemophilia

Question 17

What are pair of alleles that controls sickle cell anemia?

Answer 17

1. HbA
2. HbS

Question 18

What causes sickle cell anemia?

Answer 18

Substitution of Glu by Val at the 6th position of the B-globin chain of the Hb molecule

Question 19

What happens to the shape of the RBC if diagnosed with sickle cell anemia?

Answer 19

Elongated sickle shaped

Question 20

How does the shape of the RBC change with sickle cell anemia?

Answer 20

Polymerization under low oxygen tension

Question 21

What are some of the symptoms and effects of sickle cell anemia?

Answer 21

1. Swelling of the hands and feet
2. Fatigue or extreme tiredness
3. Jaundice
4. Delayed growth
5. Episodes of pain

Question 22

What disorder is an inborn error of metabolism?

Answer 22

Phenylketonuria

Question 23

What do you call the disorder where the affected individual lacks an enzyme to convert Phe to Tyr?

Answer 23

Phenylketonuria

Question 24

How does mental retardation occurs when diagnosed with Phenylketonuria?

Answer 24

Accumulation of Phe converted into phenylpyruvic acid

Question 25

T/F. When diagnosed with PKU, does the kidney have poor absorption?

Answer 25

True

Question 26

What are some of the symptoms of PKU?

Answer 26

Black urine

Question 27

What disorder is the reduced rate of synthesis of one of the globin chains (a or b chains) that make up Hb?

Answer 27

Thalassemia

Question 28

What disorder is the formation of abnormal Hb?

Answer 28

Thalassemia

Question 29

What are the two types of Thalassemia?

Answer 29

1. Alpha Thalassemia 2. Beta Thalassemia

Question 30

What type of thalassemia is where the alpha chain is affected?

Answer 30

Alpha Thalassemia

Question 31

Chromosome 16 in a-thalassemia is controlled by what two genes?

Answer 31

1. HBA1 2. HBA2

Question 32

What chromosome is affected in a-thalassemia?

Answer 32

Chromosome 16 of each parent

Question 33

What type of thalassemia where the beta globin chain is affected?

Answer 33

Beta Thalassemia

Question 34

Chromosome 11 of b-thalassemia is controlled by what gene?

Answer 34

HBB

Question 35

What chromosome in b-thalassemia is controlled by HBB?

Answer 35

Chromosome 11 of each parent

Question 36

What autosomal disorder is a quantitative problem?

Answer 36

Thalassemia

Question 37

What autosomal disorder is a qualitative problem?

Answer 37

Sickle-cell anemia

Question 38

What is the autosomal recessive disorder of infants?

Answer 38

Cystic Fibrosis

Question 39

What causes cystic fibrosis?

Answer 39

Recessive autosomal allele chromosome 7

Question 40

What disorder produces a defective glycoprotein?

Answer 40

Cystic Fibrosis

Question 41

What disorder is the formation of thick mucus in skin, lungs, pancreas, liver, and other secretory organs?

Answer 41

Cystic Fibrosis

Question 42

What do you call the increase in a whole set of chromosomes?

Answer 42

Polyploidy

Question 43

What are some examples of polyploidy?

Answer 43

1. Down's Syndrome 2. Klinefelter's Syndrome 3. Turner's Syndrome

Question 44

What is the cause of down's syndrome?

Answer 44

Trisomy of Chromosome 21

Question 45

Who described the Down's Syndrome?

Answer 45

Langdon Down (1866)

Question 46

This syndrome features short statured with small round head, furrowed tongue, partially opened mouth.

Answer 46

Down's Syndrome

Question 47

T/F. In Down's Syndrome, is the palm broad with palm crease?

Answer 47

True

Question 48

T/F. In Down's Syndrome, the physical, psychomotor and mental development is retarded.

Answer 48

True

Question 49

What is the cause of Klinefelter's Syndrome?

Answer 49

Karyotype of 47 XXY

Question 50

T/F. Are Klinefelter's Syndrome sterile?

Answer 50

True

Question 51

What is the cause of Turner's Syndrome?

Answer 51

Karyotype 45 with XO