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Biochemistry Block 4 > Consanguinity And Cytogenetics > Flashcards

Consanguinity And Cytogenetics Flashcards

1
Q

2 types of patterns associated with lethal alleles

A
  1. Recessive lethal alleles

2. Present/expressed in combination

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2
Q

When will a person with a recessive lethal allele not show the phenotype?

What is the % of this lethal equivalent?

A

When the person remains heterozygous for the loci

50%

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3
Q

Lethal allele groups- a person can have several of the alleles of a lethal allele group, but it will not be expressed if

A

It is not expressed at the homozygous level

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4
Q

On average, how many lethal equivalents does a person carry

A

3-8 (5)

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5
Q

Methemoglobinemia:

  1. What is methemoglobin
  2. Characteristic of methemoglobin? (2)
  3. How will blood appear in people with this condition?
  4. Another name for this condition
A
  1. Heme iron is oxidized from Fe2+ to Fe3+
  2. No affinity for oxygen; stays in deoxygenated form
  3. Blood has a bluish-chocolate brown color
  4. Chocolate cyanosis
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6
Q

How to tell if blood is blue due to methemoglobinemia vs lack of oxygen?

A

Lack of oxygen blood will immediately turn red when exposed to air, methemoglobinemia blood will not

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7
Q

4 oxidative stressors that will cause acquired methemoglobinemia

A

Certain drugs, antibiotics, caine anesthetics, and compounds containing nitrates

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8
Q

Infants under 6 months are more prone to methemoglobinemia caused by?

Why does this affect babies more than adults?

A

Elevated nitrates in drinking water/certain foods

Enzymes used to protect against methemoglobinemia have not yet reached adult levels

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9
Q

Causes of congenital methemoglobinemia:

  1. Deficiency of what 3 enzymes/what do they do
  2. What 2 types of abnormal hemoglobin?
A
  1. NADH methemoglobin reductase (diaphorase I) - converts Fe3+ back to Fe2+
    Pyruvate kinase- impaired production of NADH
    G6P dehydrogenase- impaired production of NADPH (HMP shunt problems)
  2. HbH and HbM
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10
Q
  1. Which of the previously mentioned enzyme is defective in the kentucky blue people
  2. What accumulates in the blood
  3. Is the enzyme completely devoid or deficient?
A
  1. NADH-methemoglobin reductase
  2. Methemoglobin
  3. Deficient
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11
Q

Methemoglobin in blood:

  1. Taut or relaxed state
  2. Oxy or deoxy
  3. __ 2,3 BPG levels
  4. Treatment and side effect of this treatment
A
  1. Taut
  2. Deoxy
  3. Increased
  4. Methylene blue; urine turned blue
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12
Q

Von Hippel-Lindau syndrome:

  1. Mutation in what gene
  2. One result of this condition
  3. ~20% of people with this syndrome have tumor of __
  4. Symptom? Why?
A
  1. Tumor suppressor gene
  2. Pheochromocytomas
  3. Adrenal gland
  4. Explosive temper; excess production of adrenaline
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13
Q

Lynch syndrome:

  1. What is it
  2. Defect in what genes
  3. Another name
  4. Prevalent where in america?
A
  1. Hereditary nonpolyposis colorectal cancer
  2. Mismatch repair genes
  3. American founder mutation
  4. Kentucky
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14
Q
  1. What is euploidy

2. Number of chromosomes in humans of haploid, diploid, triploid, and tetraploid

A
  1. When a cell has a multiple of 23 chromosomes

2. 23, 46, 69, 92

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15
Q

Triploidy:

  1. How many chromosomes
  2. Usually a result of
  3. Death occurs quickly due to defects of what 2 systems
A
  1. 69
  2. 2 sperm fertilizing the same egg
  3. Heart and CNS
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16
Q

Tetraploidy

  1. How many chromosomes
  2. Usually die when
A
  1. 92

2. Before birth

17
Q
  1. What is aneuploidy
  2. Monosomy?
  3. Trisomy?
A
  1. Deviation from the euploid number of chromosomes (loss or gain of specific chromosomes)
  2. One copy of a specific chromosome is present
  3. Three copies of a specific chromosome is present
18
Q
  1. There is only one monosomy compatible with life - what is it
  2. Which 3 trisomies can potentially survive
  3. Which type of trisomies may even appear normal?
A
  1. Turner syndrome - only 1 X chromosome
  2. 13, 18 and 21
  3. Sex chromosome trisomies
19
Q

So based on the previous, does the body tolerate extra genetic information or loss of genetic information better?

A

Extra genetic information

20
Q

What are monosomies and trisomies caused by

A

Nondisjunction of chromosomes during meiosis

21
Q
  1. How will a meiosis I nondisjunction appear?
  2. How will a meiosis II nondisjunction appear?
  3. This both contribute to what kind of disorder
  4. Which is more serious
  5. What increases risk of nondisjunction? In meiosis I or II?
A
  1. All chromosomes go to one cell, other cell has no copy of chromosome
  2. Ends with 2 normal cells, as well as one that has no genetic information and one that has double
  3. Trisomy
  4. Meiosis I nondisjunction
  5. Increased maternal age; I
22
Q

Trisomy 21:

  1. Causes?
  2. Most genetic cause of?
  3. Recap: what is the most common hereditary cause of the answer to 2. ?
A
  1. Down syndrome
  2. Mental retardation
  3. Fragile X

So Fragile X = hereditary
Down syndrome= genetic

23
Q

Down syndrome symptoms

~what type of cancer are they more prone to

A

Short, characteristic face, congenital heart defects, respiratory infections, increased risk of leukemia, alzhemiers by 40

24
Q

Trisomy 18:

  1. Causes what syndrome
  2. When do they usually die
  3. Symptoms (4)
A
  1. Edwards syndrome
  2. First year of life
  3. Clenched fist, rocker bottom feet, prominent occiput, small mouth/ears/size overall
25
Q

Trisomy 13:

  1. Causes what syndrome
  2. Symptoms (3)
A
  1. Patau

2. Oral-facial clefts, microphtalmia (small eyes), polydactyly

26
Q
  1. What is sex chromosome aneuploidy

2. Why are they less severe than autosomal aneuploidies?

A
  1. Increased or decreased amount of sex chromosomes

2. At least one X chromosome is required for survival

27
Q

Klinefelter syndrome:

  1. What is the sex chromosome defect (what are they instead of XY or XX)
  2. Are they male or female
  3. Symptoms
A
  1. XXY
  2. Male
  3. Atrophy of seminiferous tubules/testes (sterile), long arms/legs, lack of male secondary sex characteristics, breast development, low IQ
28
Q

Turner syndrome:

  1. Type of disease
  2. Some variation among survivors of what defines this disease- name the 3
  3. Symptoms
A
  1. Monosomy
  2. Either only one X chromosome, missing part of one of the X chromosomes, or are mosaics
  3. Short, webbed neck, lymphedema, widely spaced nipples, sterile due to gonadal dysgenesis
29
Q

XYY males

  1. How do they look
  2. Other symptom?
A
  1. Usually normal males, but very tall

2. Mild social problems

30
Q

XXX females

1. Symptom

A
  1. Essentially normal (most are never diagnosed) increased probability of psych problems (schizophrenia)

Biochemistry Block 4 (9 decks)

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