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Questions

Question 1

In the context of twin studies, what does the term 'concordance' refer to?

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Question 2

If a trait is entirely determined by genetics, what concordance would be expected in monozygotic twins?

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Question 3

What does a monozygotic twin concordance rate of less than 100 percent for a specific trait indicate?

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Question 4

What is the standard symbol used to represent a male in a pedigree chart?

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Question 5

In a pedigree, what does the term 'proband' or 'propositus' signify?

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Question 6

What is the single most defining characteristic of Y-linked inheritance in a pedigree?

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Question 7

What is the key pattern of mitochondrial inheritance seen in pedigrees?

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Question 8

Which observation in a pedigree would allow you to definitively rule out X-linked dominant (XD) inheritance?

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Question 9

In a pedigree for a rare autosomal recessive (AR) trait, what is a common characteristic feature?

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Question 10

What is the probability that an unaffected individual is a heterozygous carrier for an autosomal recessive trait if their parents are both heterozygous carriers?

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Question 11

Which of the following scenarios can definitively rule out autosomal recessive (AR) inheritance?

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Question 12

What is the most likely mode of inheritance if a trait is rare, appears to skip generations, and is significantly more common in males than females?

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Question 13

How does consanguineous mating affect the likelihood of observing a rare autosomal recessive disorder in a pedigree?

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Question 14

In the provided text, what is a primary limitation of pedigree analysis?

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Question 15

Based on the twin study data for colon cancer (monozygotic concordance 4.7 percent, dizygotic concordance 2.6 percent), what can be concluded about its cause?

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Question 16

What is the purpose of an adoption study in genetics?

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Question 17

In a pedigree analysis of a rare trait, why is it usually assumed that unrelated individuals marrying into the family are not carriers of the trait's allele?

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Question 18

Which of the following modes of inheritance can be conclusively ruled out if a trait is transmitted from a father to his son?

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Question 19

An X-linked recessive (XR) trait can be ruled out if which of the following is observed in a pedigree?

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Question 20

Why are traits caused by genes on the Y chromosome considered rare?

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Question 21

In the analysis of the pedigree in Figure 12, what is the assigned genotype for individual I-4 and why?

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Question 22

What is the probability that individual III-1 in the pedigree from Figure 12 has the genotype Aa?

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Question 23

According to the final calculation in the provided text for the pedigree in Figure 12, what is the overall probability that a child of III-1 and III-2 will be affected with the autosomal recessive trait?

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Question 24

In a pedigree, how is an individual affected by the trait being tracked typically indicated?

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Question 25

What complication in 'real-life' pedigrees can make a dominant trait appear to skip a generation?

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Question 26

According to the twin study data for eye color provided in Table 1, what is the monozygotic and dizygotic concordance respectively?

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Question 27

What did the twin study on Scarlet Fever, with a monozygotic concordance of 88 percent and dizygotic concordance of 92 percent, conclude about the cause of the trait?

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Question 28

How did the text describe the inheritance pattern of Celiac disease?

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Question 29

In the historical context of pedigree analysis, why was the ABO blood group often used for linkage studies?

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Question 30

If a pedigree for a rare trait shows affected individuals in every generation, what is the most likely mode of inheritance?

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Question 31

What does a horizontal line connecting a square and a circle in a pedigree represent?

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Question 32

In the step-by-step probability calculation, why is it assumed that individuals II-3 and II-4 have the genotype AA?

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Question 33

What is the genotype of individual II-5 in the pedigree used for the probability calculation (Figure 12)?

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Question 34

If a trait has a monozygotic concordance of 72 percent and a dizygotic concordance of 74 percent, what is the most likely cause?

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Question 35

If a trait has a monozygotic concordance of 12 percent and a dizygotic concordance of 3 percent, what is the most likely cause?

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Question 36

How many modes of inheritance are discussed in the 'Inferring the Mode of Inheritance' section?

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Question 37

What is the primary reason that it can be difficult to rule out Autosomal Recessive (AR) inheritance even if a trait appears in every generation?

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Question 38

Which of the following describes the key difference in interpreting twin studies versus adoption studies?

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Question 39

An autosomal dominant (AD) trait can be ruled out if what is observed in a pedigree with complete penetrance?

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Question 40

How many affected children did the 1975 study on Celiac disease find out of the 36 children born to a parent with the disease?

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Question 41

What does it mean if a trait is described as 'variably expressive'?

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Question 42

In a pedigree showing an X-linked recessive trait, why can an affected daughter not have an unaffected father?

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Question 43

If you observe a pedigree where affected individuals appear in every generation and roughly equal numbers of males and females are affected, but you also see father-to-son transmission, what mode of inheritance can you not rule out?

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Question 44

What is the maximum number of alleles for a single gene that a diploid individual can have?

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Question 45

When comparing possible vs. most likely modes of inheritance, a great discrepancy between the number of affected males and females points toward which type of inheritance?

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Question 46

In the probability calculation shown in Figure 12, what is the probability that individual II-2 is a carrier (Aa)?

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Question 47

What does a diamond symbol containing a number '3' inside represent on a pedigree chart, according to the provided symbol keys?

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Question 48

The chapter discusses how pedigree analysis and twin studies were used to find the causes of Celiac disease. What did these tools help determine?

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Question 49

According to the text, which of these is NOT one of the six modes of inheritance examined using pedigrees?

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Question 50

If two individuals with an autosomal dominant trait have an unaffected child, what can be inferred about the parents' genotypes?

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