MLSBIO101 GENETIC DISORDER Flashcards
What disorder is the alteration or mutation in the single gene?
Mendelian Disorder
What disorder is transmitted to the offspring?
Mendelian disorder
What disorder can be traced in a family by the pedigree analysis?
Mendelian Disorder
What analysis is used to trace mendelian disorders in a family?
Pedigree Analysis
What are some of the examples of Mendelian disorders?
- Haemophilia
- Cystic fibrosis
- Sickle cell anemia
- Color blindness
- PKU
- Thalassemia
What disorder is due to the absence or excess or abnormal arrangement of one or more chromosomes?
Chromosomal disorder
What disorder is the failure of segregation of chromatids in cell division cycle which results in the game or loss of chromosomes?
Chromosomal Disorder
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?
Aneuploidy
What are some examples of Chromosomal Disorders?
- Down’s Syndrome
- Klinefelter’s Syndrome
What are the two types of mendelian disorders?
- Sex Linked
- Autosomal
What are the two examples of sex linked mendelian disorders?
- Color Blindness
- Hemophilia
What are the three examples of autosomal mendelian disorders?
- Sickle cell anemia
- PKU
- Thalassemia
What disorder is unable to discriminate red and green colors? It is also sex linked (X linked recessive)
Color blindness
What are the cause of color blindness?
Faulty Cones
On what sex does color blindness occur more?
Male (8%)
(Female is 0.4%)
What disorder is the nonstop bleeding due to one defected gene responsible for blood clotting? It is also sex linked (X-linked recessive)
Hemophilia
What are pair of alleles that controls sickle cell anemia?
- HbA
- HbS
What causes sickle cell anemia?
Substitution of Glu by Val at the 6th position of the B-globin chain of the Hb molecule
What happens to the shape of the RBC if diagnosed with sickle cell anemia?
Elongated sickle shaped
How does the shape of the RBC change with sickle cell anemia?
Polymerization under low oxygen tension
What are some of the symptoms and effects of sickle cell anemia?
- Swelling of the hands and feet
- Fatigue or extreme tiredness
- Jaundice
- Delayed growth
- Episodes of pain
What disorder is an inborn error of metabolism?
Phenylketonuria
What do you call the disorder where the affected individual lacks an enzyme to convert Phe to Tyr?
Phenylketonuria
How does mental retardation occurs when diagnosed with Phenylketonuria?
Accumulation of Phe converted into phenylpyruvic acid
T/F. When diagnosed with PKU, does the kidney have poor absorption?
True
What are some of the symptoms of PKU?
Black urine
What disorder is the reduced rate of synthesis of one of the globin chains (a or b chains) that make up Hb?
Thalassemia
What disorder is the formation of abnormal Hb?
Thalassemia
What are the two types of Thalassemia?
- Alpha Thalassemia
- Beta Thalassemia
What type of thalassemia is where the alpha chain is affected?
Alpha Thalassemia
Chromosome 16 in a-thalassemia is controlled by what two genes?
- HBA1
- HBA2
What chromosome is affected in a-thalassemia?
Chromosome 16 of each parent
What type of thalassemia where the beta globin chain is affected?
Beta Thalassemia
Chromosome 11 of b-thalassemia is controlled by what gene?
HBB
What chromosome in b-thalassemia is controlled by HBB?
Chromosome 11 of each parent
What autosomal disorder is a quantitative problem?
Thalassemia
What autosomal disorder is a qualitative problem?
Sickle-cell anemia
What is the autosomal recessive disorder of infants?
Cystic Fibrosis
What causes cystic fibrosis?
Recessive autosomal allele chromosome 7
What disorder produces a defective glycoprotein?
Cystic Fibrosis
What disorder is the formation of thick mucus in skin, lungs, pancreas, liver, and other secretory organs?
Cystic Fibrosis
What do you call the increase in a whole set of chromosomes?
Polyploidy
What are some examples of polyploidy?
- Down’s Syndrome
- Klinefelter’s Syndrome
- Turner’s Syndrome
What is the cause of down’s syndrome?
Trisomy of Chromosome 21
Who described the Down’s Syndrome?
Langdon Down (1866)
This syndrome features short statured with small round head, furrowed tongue, partially opened mouth.
Down’s Syndrome
T/F. In Down’s Syndrome, is the palm broad with palm crease?
True
T/F. In Down’s Syndrome, the physical, psychomotor and mental development is retarded.
True
What is the cause of Klinefelter’s Syndrome?
Karyotype of 47 XXY
T/F. Are Klinefelter’s Syndrome sterile?
True
What is the cause of Turner’s Syndrome?
Karyotype 45 with XO
