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General Pathology > 7 - Genetic and Pediatric Disease (Exam 2) > Flashcards

7 - Genetic and Pediatric Disease (Exam 2) Flashcards

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1
Q

What are the three major categories of human disease determined by?

A
  1. Environmental factors
  2. Genetics
  3. Combination of environmental factors and genetics
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2
Q

Are humans diploid or haploid, and what does that mean?

A

Diploid

Have pairs of each chromosome

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3
Q

How many pairs of chromosomes do humans have, and what is the total number of chromosomes?

A

23 pairs of chromosomes

46 total chromosomes

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4
Q

What is karyotyping?

A

The study of number, size and shape of somatic chromosomes

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5
Q

How many pairs of autosomes do humans have?

A

22 pairs

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6
Q

How many pairs of sex chromosomes do humans have?

A

1 pair

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7
Q

What do the sex chromosomes of a female present as?

A

XX

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8
Q

What do the sex chromosomes of a male present as?

A

XY

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9
Q

What percent of newborns possess a gross (physical) chromosomal abnormality?

A

1%

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10
Q

About what percent of pregnancies end in miscarriage?

A

33%

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11
Q

What are mutations?

A

Permanent changes in DNA structure

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12
Q

What are the two major types of mutations?

A
  1. Genome mutations

2. Chromosome mutations

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13
Q

What are two types of genome mutations?

A
  1. Point mutations

2. Frameshift mutations

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14
Q

What are point mutations?

A

Substitution of a single nucleotide

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15
Q

What are frameshift mutations, and what do they cause?

A

Insertion/deletion of one or two base pairs of an allele

Cause alteration in reading frame of DNA

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16
Q

How do chromosome mutations differ from genome mutations, and how do they occur?

A

Usually numerical errors (chromosome compliment not a multiple of 23) resulting from faulty disjunction during meiosis
Results in extra chromosome/ extra copy of genes
Example: Down’s syndrome - trisomy 21

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17
Q

What is aneuploidy?

A

Numerical errors in chromosomes

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18
Q

What is of primary importance with chromosomal aberrations?

A

Karyotype analysis

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19
Q

With sex chromosome aberration, most traits are lethal. What is frequent in survivors?

A

Mental retardation

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20
Q

Do sex chromosome aberrations typically have a family history?

A

No

Therefore pedigree analysis is difficult and not practical

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21
Q

What are 3 categories of genetic disease?

A
  1. Single gene inheritance
  2. Multifactorial or polygenic inheritance
  3. Chromosomal aberrations/ cytogenic disorders
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22
Q

What are individuals with single gene inheritance carriers of?

A

5-8 deleterious genes

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23
Q

What are the majority (80-85%) of single gene inheritances?

A

Familial

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24
Q

What are the 4 patterns of single gene inheritance?

A
  1. Autosomal dominant
  2. Autosomal recessive
  3. X-linked dominant
  4. X-linked recessive
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25
What are X-linked chromosome related disorders also known as?
Sex linked chromosome related disorders
26
Will autosomal dominant disorders manifest in a heterozygous state?
Typically yes | However don't always manifest
27
What percent of offspring will be affected if one parent is affected with an autosomal dominant disorder?
Equal risk for boys and girls 50% of boys 50% of girls
28
What may cause skipping of generations with autosomal dominant disorders?
Reduced penetrance
29
How are autosomal dominant disorders expressed, and does expressivity vary?
As a production of an abnormal protein Can be structural or enzymatic Expressivity varies from mild to severe
30
Can the onset of an autosomal dominant disorder be delayed?
Yes | May not present until later on in life
31
What is the largest category of Mendelian disorders?
Autosomal recessive disorders
32
What gives an increased risk to offspring with autosomal recessive disorders?
Incest
33
What is the risk to children of expressing an autosomal recessive disorder if both parents are carriers?
Equal for boys and girls 25% of boys 25% of girls
34
Is there a risk that offspring of one autosomal recessive disorder carrier parent will express the disorder?
No | There is a chance they will be a carrier
35
Does expressivity vary with autosomal recessive disorders?
No | Often very severe
36
With what chromosome are ALL sex chromosome related disorders linked to?
X chromosome
37
What is the chance female carrier will pass an X-linked condition to male offspring?
50%
38
What is the chance a male with an X-linked disorder passes the condition to female offspring? To male offspring?
Female - 100% will be carriers Male - 0% will be affected Assuming mother is not a carrier
39
What are 2 common features common to all sex chromosome disorders?
1. Subtle, chronic problems related to sexual development, therefore difficult to diagnose at birth 2. Higher number of X chromosomes results in higher likelihood of mental retardation
40
Are there any carriers for X-linked dominant disorders?
No | Genotype always shows the phenotype
41
What percent of offspring of heterozygous females will be affected with an X-linked dominant disorder?
Same chance for boys and girls 50% of boys 50% of girls Assuming father does not have trait as well
42
Can males affected by an X-linked dominant disorder pass it on to their sons?
No | X-linked father can only pass X to daughters
43
What percentage of female offspring of father with an X-linked dominant disorder will present with the condition?
100%
44
Is pedigree analysis easy with X-linked dominant disorders, and how do the numbers of affected males and females differ?
Yes, fairly easy | Twice as many females as males in theory
45
What type of disorder presents with a relatively high proportion of ocular anomalies?
X-linked recessive disorders
46
If a father with an X-linked recessive trait has a daughter without the trait, what is true?
He is NOT the father
47
What type of factors of human disease are important with expression of multifactorial/polygenic traits?
Environmental factors
48
Does expression with multifactorial traits vary?
Yes | Continuous variation
49
What is risk associated with in multifactorial traits?
Degree of relationship of family members | Number of affected family members
50
What are 4 types of genetic syndromes?
1. Down syndrome 2. Marfan syndrome 3. Turners syndrome 4. Klinefelters syndrome
51
What is another name for Down syndrome?
Trisomy 21
52
What is the most common chromosomal disorder?
Down syndrome
53
What gives a greater risk of a child being born with Down syndrome?
Increased age of the mother
54
At what age are people with Down syndrome at greatly increased risk of Alzheimer's and why?
40 years old | Collection of metabolites in the brain
55
What are 6 ocular symptoms of Down syndrome?
1. Oblique palpebral fissures 2. Strabismus 3. Refractive error 4. Epicanthal folds 5. Cataracts 6. Blepharitis
56
What is Marfan syndrome and what is it caused by?
A connective tissue disorder | Caused by a dominant allele
57
What are 4 symptoms of Marfan syndrome
1. Tall with long extremities 2. Scoliosis 3. Depressed sternum 4. Mitral valve prolapse/ aortic deformities
58
What are 5 ocular symptoms of Marfan syndrome?
1. Lens subluxation (dislocation) 2. Iris hypoplasia (poor iris development) 3. Myopia 4. Ptosis 5. Strabismus
59
What is Turners syndrome?
Complete or partial monosomy of X chromosome | Only occurs in females
60
What are 4 symptoms of Turners syndrome?
1. Short stature 2. Low posterior hairline 3. Webbing of neck 4. No menstruation
61
What are 5 ocular symptoms of Turners syndrome?
1. Prominent epicanthal folds 2. Ptosis 3. Strabismus 4. Blue sclera 5. Cataracts
62
What is Klinefelters syndrome?
Two or more X chromosomes and one Y | Only occurs in males
63
How often does Klinefelters occur?
1 in 850 live male births

General Pathology (16 decks)

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