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BSMLS2A FINALS > MLSBIO101 GENETIC DISORDER > Flashcards

MLSBIO101 GENETIC DISORDER Flashcards

1
Q

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

A

Mendelian Disorder

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2
Q

What disorder is transmitted to the offspring?

A

Mendelian disorder

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3
Q

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

A

Mendelian Disorder

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4
Q

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

A

Pedigree Analysis

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5
Q

What are some of the examples of Mendelian disorders?

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

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

A

Chromosomal disorder

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7
Q

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

A

Chromosomal Disorder

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8
Q

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?

A

Aneuploidy

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9
Q

What are some examples of Chromosomal Disorders?

A
  1. Down’s Syndrome
  2. Klinefelter’s Syndrome
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10
Q

What are the two types of mendelian disorders?

A
  1. Sex Linked
  2. Autosomal
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11
Q

What are the two examples of sex linked mendelian disorders?

A
  1. Color Blindness
  2. Hemophilia
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12
Q

What are the three examples of autosomal mendelian disorders?

A
  1. Sickle cell anemia
  2. PKU
  3. Thalassemia
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13
Q

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

A

Color blindness

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14
Q

What are the cause of color blindness?

A

Faulty Cones

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15
Q

On what sex does color blindness occur more?

A

Male (8%)

(Female is 0.4%)

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16
Q

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

A

Hemophilia

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17
Q

What are pair of alleles that controls sickle cell anemia?

A
  1. HbA
  2. HbS
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18
Q

What causes sickle cell anemia?

A

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

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19
Q

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

A

Elongated sickle shaped

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20
Q

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

A

Polymerization under low oxygen tension

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21
Q

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

A
  1. Swelling of the hands and feet
  2. Fatigue or extreme tiredness
  3. Jaundice
  4. Delayed growth
  5. Episodes of pain
22
Q

What disorder is an inborn error of metabolism?

A

Phenylketonuria

23
Q

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

A

Phenylketonuria

24
Q

How does mental retardation occurs when diagnosed with Phenylketonuria?

A

Accumulation of Phe converted into phenylpyruvic acid

25
Q

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

A

True

26
Q

What are some of the symptoms of PKU?

A

Black urine

27
Q

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

A

Thalassemia

28
Q

What disorder is the formation of abnormal Hb?

A

Thalassemia

29
Q

What are the two types of Thalassemia?

A
  1. Alpha Thalassemia
  2. Beta Thalassemia
30
Q

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

A

Alpha Thalassemia

31
Q

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

A
  1. HBA1
  2. HBA2
32
Q

What chromosome is affected in a-thalassemia?

A

Chromosome 16 of each parent

33
Q

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

A

Beta Thalassemia

34
Q

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

A

HBB

35
Q

What chromosome in b-thalassemia is controlled by HBB?

A

Chromosome 11 of each parent

36
Q

What autosomal disorder is a quantitative problem?

A

Thalassemia

37
Q

What autosomal disorder is a qualitative problem?

A

Sickle-cell anemia

38
Q

What is the autosomal recessive disorder of infants?

A

Cystic Fibrosis

39
Q

What causes cystic fibrosis?

A

Recessive autosomal allele chromosome 7

40
Q

What disorder produces a defective glycoprotein?

A

Cystic Fibrosis

41
Q

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

A

Cystic Fibrosis

42
Q

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

A

Polyploidy

43
Q

What are some examples of polyploidy?

A
  1. Down’s Syndrome
  2. Klinefelter’s Syndrome
  3. Turner’s Syndrome
44
Q

What is the cause of down’s syndrome?

A

Trisomy of Chromosome 21

45
Q

Who described the Down’s Syndrome?

A

Langdon Down (1866)

46
Q

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

A

Down’s Syndrome

47
Q

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

A

True

48
Q

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

A

True

49
Q

What is the cause of Klinefelter’s Syndrome?

A

Karyotype of 47 XXY

50
Q

T/F. Are Klinefelter’s Syndrome sterile?

A

True

51
Q

What is the cause of Turner’s Syndrome?

A

Karyotype 45 with XO

BSMLS2A FINALS (6 decks)

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