Block 7 Repro Genetics MCQ's Prt 1
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- 1.
A 25-year-old female comes to your OB/GYN practice at a highly respected medical center noted for it’s involvement in sequencing the human genome. Her primary complaint is amenorrhea. Since you have a keen interest in genetic bases for reproductive dysfunction, you obtain tissue from this young female and have the laboratory perform a gene scan. The result of this genetic analysis reveals a point mutation in the gene encoding for protein kinase A in theca and granulosa cells. Based upon these findings, what is an appropriate finding associated with her amenorrhea?
- A.
Over-expression of luteinizing hormone (LH) and follicle stimulating hormone (FSH).
- B.
Under-expression of gonadotropin releasing hormone (GnRH) by the paraventricular nucleus of the hypothalamus.
- C.
Over-expression of oxytocin by supraoptic neurons (SON) of the hypothalamus.
- D.
Over-expression of aromatase by granulosa cells of the ovary.
- E.
Over-expression of cholesterol side chain cleaving enzyme (also known as desmolase) by mitochondria of theca and granulosa cells of the ovary.
Correct Answer
A. Over-expression of luteinizing hormone (LH) and follicle stimulating hormone (FSH).Explanation
The presence of a point mutation in the gene encoding for protein kinase A in theca and granulosa cells suggests that there is a dysregulation of the signaling pathway mediated by this enzyme. Protein kinase A is involved in the regulation of hormone production and function in the ovary. Over-expression of luteinizing hormone (LH) and follicle stimulating hormone (FSH) can occur as a result of this dysregulation, leading to amenorrhea.Rate this question:
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- 2.
Endometriosis is a condition in which functional endometrial tissue is found at locations other than the uterus. From the following table, pick the correct designation of hormones that account for proliferation, secretory function, and desquamation of ectopic endometrial tissue. Cellular proliferation Increased secretory function Desquamation A Progesterone Estrogen Increased estrogen B Estrogen Estrogen Decreased progesterone C Progesterone Progesterone Increased estrogen D Estrogen Progesterone Decreased progesterone E Progesterone Estrogen Decreased estrogen
- A.
A
- B.
S
- C.
C
- D.
D
- E.
E
Correct Answer
D. DExplanation
The correct designation of hormones that account for proliferation, secretory function, and desquamation of ectopic endometrial tissue is estrogen for cellular proliferation, progesterone for increased secretory function, and decreased progesterone for desquamation. This is indicated by the hormone combination in option D, which includes estrogen for proliferation, progesterone for secretory function, and decreased progesterone for desquamation.Rate this question:
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- 3.
The figure below illustrates the time course of plasma estradiol concentration during the ovarian cycle. From the table below pick the correct type of feedback regulation of LH secretion that exists at the boxes labeled “1” and “2”.
- A.
A
- B.
B
- C.
C
- D.
D
Correct Answer
C. CExplanation
The correct type of feedback regulation of LH secretion that exists at the boxes labeled "1" and "2" is negative feedback. This is because when estradiol levels rise during the ovarian cycle, it inhibits the release of LH, preventing further increase in estradiol levels. This negative feedback helps maintain a balance in hormone levels and regulate the ovarian cycle.Rate this question:
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- 4.
A 22-year-old female (5 ft 2 in) experienced her first menstrual cycle at age 14. Until recently, she had normal, regular menstrual cycles with an interval of 30 days. Six months ago she began training for a marathon. She runs roughly 115 miles a week and as a result of her training regimen she has lost 20 pounds (110 pounds before and 90 pounds now). She has not menstruated for the past three (3) months. What is the best explanation for her amenorrhea?
- A.
Absence of GnRH surge
- B.
Prolonged elevation of follicle stimulating hormone
- C.
Increase in plasma leptin
- D.
Absence of a surge in luteinizing hormone
- E.
Abnormally elevated plasma estradiol
Correct Answer
D. Absence of a surge in luteinizing hormoneExplanation
The best explanation for the woman's amenorrhea is the absence of a surge in luteinizing hormone. This hormone is responsible for triggering ovulation and the release of an egg from the ovary. Without the surge in luteinizing hormone, ovulation does not occur, leading to the absence of menstrual cycles. The intense training and weight loss may have disrupted the hormonal balance in her body, causing the absence of the surge in luteinizing hormone.Rate this question:
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- 5.
Which of the following statements characterizes the proliferative phase of the endometrium of the menstrual cycle?
- A.
Ischemia and necrosis of the stratum functionale is the main event.
- B.
It depends on estrogen
- C.
It starts upon arrival of ovulation
- D.
The uterine glands are highly coiled and their lumens are filled with secretions
- E.
Endocervix is sloughed off.
Correct Answer
B. It depends on estrogenExplanation
The proliferative phase of the endometrium is characterized by the growth and development of the functional layer of the uterus, known as the stratum functionale. This growth is stimulated by estrogen, which is produced by the developing ovarian follicles. During this phase, the uterine glands become highly coiled and their lumens are filled with secretions. Ischemia and necrosis of the stratum functionale occur during the menstrual phase, not the proliferative phase. The proliferative phase begins after menstruation and before ovulation. The endocervix is not sloughed off during the proliferative phase.Rate this question:
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- 6.
The adjacent figure illustrates the time course of plasma estradiol concentration during the ovarian cycle. Pick the correct concept map that depicts the feedback relationship that exists during the phase of estradiol concentration indicated by the dashed box 1.
- A.
A
- B.
B
- C.
C
- D.
D
Correct Answer
B. B -
- 7.
Female reproduction I (ovary) Which of the following statements concerning the ovary is CORRECT?
- A.
The granulosa layer of cells of a secondary follicle is highly vascularized
- B.
The theca externa produces androstenedione
- C.
The basal lamina separates the primary oocyte from the granulosa layer
- D.
The zona pellucida found in the secondary follicle is composed of GAGs and glycoproteins
- E.
The secondary follicle contains a secondary oocyte
Correct Answer
D. The zona pellucida found in the secondary follicle is composed of GAGs and glycoproteinsExplanation
The zona pellucida found in the secondary follicle is composed of glycosaminoglycans (GAGs) and glycoproteins.Rate this question:
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- 8.
Which of the following statements concerning the hormonal interplay on the ovary is CORRECT?
- A.
FSH stimulates the primordial follicles to develop
- B.
LH stimulates proliferation of the granulosa layer of cells in the multilamina primary follicle
- C.
Activin stimulates proliferation of the follicular layer to form the granulosa layer in the multilaminar primary follicle
- D.
FSH inhibits the production of progesterone in the corpus luteum
- E.
LH inhibits the production of estrogen in the corpus luteum
Correct Answer
C. Activin stimulates proliferation of the follicular layer to form the granulosa layer in the multilaminar primary follicleExplanation
The correct answer is "Activin stimulates proliferation of the follicular layer to form the granulosa layer in the multilaminar primary follicle." Activin is a hormone that plays a role in follicular development in the ovary. It stimulates the proliferation of the follicular layer, which eventually forms the granulosa layer in the multilaminar primary follicle. This is an important step in the development of the follicle and the maturation of the oocyte within it.Rate this question:
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- 9.
Some people believe that the socioeconomic status of the family in which a child is raised is a major determinant of the child’s intelligence. This theory implies that individual differences in intelligence are mainly caused by
- A.
Measurement error
- B.
Nonadditive genes
- C.
Nonshared environment
- D.
Assortative mating
- E.
Shared environment
Correct Answer
E. Shared environmentExplanation
The correct answer is shared environment. This means that the environment in which a child is raised, including factors such as family socioeconomic status, plays a significant role in determining their intelligence. It suggests that differences in intelligence among individuals are largely influenced by the common experiences and influences they share within their family and household.Rate this question:
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- 10.
For some personality traits, for example extraversion, it has been observed that identical twins are quite similar no matter whether they were reared together or apart; but ordinary siblings do not resemble each other much more than ordinary strangers, no matter if they were raised together or apart. This observation suggests an important role for
- A.
Nonshared environment
- B.
Assortative mating
- C.
Additive gene effects
- D.
Shared environment
- E.
Non-additive gene effects
Correct Answer
E. Non-additive gene effectsExplanation
The observation that identical twins are similar in personality traits regardless of whether they were raised together or apart suggests that non-additive gene effects play an important role. This means that the combination of genes from both parents interact in a way that contributes to the personality traits observed in the twins. This is different from additive gene effects, where the contribution of each gene is independent and additive. The observation also suggests that shared environment (such as being raised together) and assortative mating (choosing partners with similar traits) do not have as significant of an influence on personality traits as non-additive gene effects.Rate this question:
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- 11.
Alcoholism is considered a multifactorial trait that is four times more common in males than in females. According to the multifactorial threshold model, who is at greatest risk of alcoholism?
- A.
The daughter of an alcoholic father
- B.
The son of an alcoholic father
- C.
The son of an alcoholic mother
- D.
The daughter of an alcoholic mother
Correct Answer
C. The son of an alcoholic motherExplanation
According to the given information, alcoholism is considered a multifactorial trait that is more common in males. Therefore, the son of an alcoholic mother is at the greatest risk of alcoholism. This suggests that genetic and environmental factors play a role in the development of alcoholism, and having an alcoholic mother increases the risk for the son.Rate this question:
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- 12.
Incest should not be recommended to the general public because the children of incestuous unions have an increased risk of
- A.
Multifactorial and autosomal dominant diseases but not autosomal recessive diseases and chromosome aberrations
- B.
Autosomal recessive diseases and chromosome aberrations, but not autosomal dominant and multifactorial diseases
- C.
Autosomal dominant and autosomal recessive diseases but not multifactorial diseases and chromosome aberrations
- D.
Multifactorial and autosomal recessive diseases, but not autosomal dominant diseases and chromosome aberrations
- E.
Multifactorial diseases and chromosome aberrations but not autosomal dominant and autosomal recessive diseases
Correct Answer
D. Multifactorial and autosomal recessive diseases, but not autosomal dominant diseases and chromosome aberrationsExplanation
Incest should not be recommended to the general public because the children of incestuous unions have an increased risk of multifactorial and autosomal recessive diseases. However, they do not have an increased risk of autosomal dominant diseases and chromosome aberrations. This means that the risk of developing certain genetic disorders is higher in children born from incestuous relationships, but not all types of genetic disorders are affected.Rate this question:
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- 13.
Cleft lip occurs with a frequency of about 1 in 900. Since cleft lip behaves as a typical multifactorial disorder, you can predict that
- A.
The recurrence risk after the birth of an affected child is close to 3%
- B.
The recurrence risk after the birth of two affected children is as high as the recurrence risk after the birth of one affected child
- C.
Concordance between identical twins is close to 100%
- D.
The recurrence risk after the birth of an affected child is not significantly increased above the population incidence
- E.
The clinical severity of the defect in an affected child is unrelated to the recurrence risk
Correct Answer
A. The recurrence risk after the birth of an affected child is close to 3%Explanation
The given correct answer suggests that the recurrence risk after the birth of an affected child is close to 3%. This means that if a child is born with a cleft lip, there is a high likelihood that the condition may recur in future pregnancies, with a 3% chance. This indicates that cleft lip is influenced by multiple factors, both genetic and environmental, which contribute to its occurrence. The answer implies that the risk of recurrence is not significantly increased above the population incidence, suggesting that the condition is not solely determined by genetic factors.Rate this question:
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- 14.
If a patient is homozygote for familial hypercholesterolemia you would expect to find
- A.
Complete absence of the LDL receptor
- B.
Up-regulation of the LDL receptor
- C.
Low levels of circulating plasma LDL
- D.
Low activity of HMG-CoA reductase
- E.
Excessively high plasma levels of HDL and LDL
Correct Answer
A. Complete absence of the LDL receptorExplanation
If a patient is homozygote for familial hypercholesterolemia, it means that both copies of their LDL receptor gene are mutated or non-functional. This would result in a complete absence of the LDL receptor, as mentioned in the answer. The LDL receptor is responsible for removing LDL (low-density lipoprotein) from the bloodstream, so without functioning receptors, the patient would not be able to effectively clear LDL from their plasma. This would lead to excessively high plasma levels of LDL, which is a characteristic feature of familial hypercholesterolemia.Rate this question:
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- 15.
If you have high cholesterol, you may consider taking statins to help lower the levels. If you have desirable alleles in both the cholesteryl ester transfer protein and multidrug resistance transporter genes, the statin Fluvostatin will work well. However, if you have only undesirable alleles in both genes you will want to avoid Fluvostatin. If you have a mixture of desirable and undesirable alleles, then the number of each will determine the outcome. This description best fit which of the following concepts?
- A.
Assortative mating
- B.
Allele sharing
- C.
Additive effects
- D.
Low heritability
- E.
Anticipation
Correct Answer
C. Additive effectsExplanation
The given description best fits the concept of "Additive effects". This concept suggests that the combined effect of multiple alleles from different genes can have a cumulative impact on a trait or condition. In this case, the presence of desirable alleles in both the cholesteryl ester transfer protein and multidrug resistance transporter genes increases the effectiveness of the statin Fluvostatin in lowering cholesterol levels. On the other hand, the presence of only undesirable alleles in both genes suggests that Fluvostatin may not be as effective. The outcome is determined by the number of desirable and undesirable alleles, highlighting the additive effects of these alleles on the response to the medication.Rate this question:
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- 16.
In a study of study-behavior, Dr. Singh estimates a heritability of 90% using only monozygotic twin data. Dr. Wolman however, estimates a heritability of only 50% using data from adopted siblings. Dr. Wolman also claims that Dr. Singh overestimated the heritability because he did not account for:
- A.
Additive effects
- B.
Shared environment
- C.
Assortative mating
- D.
Polygenic inheritance
- E.
Disruptive selection
Correct Answer
B. Shared environmentExplanation
Dr. Wolman claims that Dr. Singh overestimated the heritability because he did not account for shared environment. This suggests that Dr. Wolman believes that the environmental factors that both monozygotic twins and adopted siblings share have a significant impact on study behavior. By not accounting for these shared environmental factors, Dr. Singh's estimate of heritability may have been inflated.Rate this question:
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.JPG "The adjacent figure illustrates the time course of plasma estradiol concentration during the ovarian cycle. Pick the correct concept map that depicts the feedback relationship that exists during the phase of estradiol concentration indicated by the dashed box 1.")
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Mar 22, 2023Quiz Edited by
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