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Questions and Answers
What determines whether a recessive trait will be expressed in an individual?
What determines whether a recessive trait will be expressed in an individual?
In the context of genetic disorders, what is the significance of family history?
In the context of genetic disorders, what is the significance of family history?
Which of the following is an example of a disease caused by a dominant gene mutation?
Which of the following is an example of a disease caused by a dominant gene mutation?
What is the primary difference in X-linked inheritance between AFAB and AMAB individuals?
What is the primary difference in X-linked inheritance between AFAB and AMAB individuals?
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What role does FSH play in relation to estrogen during the ovarian cycle?
What role does FSH play in relation to estrogen during the ovarian cycle?
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Which term describes the genetic makeup of an individual?
Which term describes the genetic makeup of an individual?
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During which phase does the highest level of progesterone occur?
During which phase does the highest level of progesterone occur?
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What physiological change occurs in blood volume during pregnancy?
What physiological change occurs in blood volume during pregnancy?
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How would a sex-linked recessive condition most likely present in an AMAB individual?
How would a sex-linked recessive condition most likely present in an AMAB individual?
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What effect does an increase in estrogen levels have on FSH and LH during ovulation?
What effect does an increase in estrogen levels have on FSH and LH during ovulation?
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What is a necessary condition for a recessive trait to be passed on to offspring?
What is a necessary condition for a recessive trait to be passed on to offspring?
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What happens during the luteal phase if conception does not occur?
What happens during the luteal phase if conception does not occur?
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Which of the following is NOT a reason for conducting genetic testing?
Which of the following is NOT a reason for conducting genetic testing?
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For which type of inheritance would an individual need both partners to be carriers for expression?
For which type of inheritance would an individual need both partners to be carriers for expression?
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What triggers the release of the mature ovum from the follicle?
What triggers the release of the mature ovum from the follicle?
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What is a consequence of decreased vascular resistance during pregnancy?
What is a consequence of decreased vascular resistance during pregnancy?
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Which phase of the ovarian cycle coincides with ovulation?
Which phase of the ovarian cycle coincides with ovulation?
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What role does progesterone play if conception occurs?
What role does progesterone play if conception occurs?
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What effect does an increase in both RBC and WBC have during pregnancy?
What effect does an increase in both RBC and WBC have during pregnancy?
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What is the primary effect of increased progesterone on the renal system during pregnancy?
What is the primary effect of increased progesterone on the renal system during pregnancy?
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How does increased estrogen impact respiratory function during pregnancy?
How does increased estrogen impact respiratory function during pregnancy?
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What effect does progesterone have on the gastrointestinal system during pregnancy?
What effect does progesterone have on the gastrointestinal system during pregnancy?
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What physiological change occurs in the cervix due to increased estrogen during pregnancy?
What physiological change occurs in the cervix due to increased estrogen during pregnancy?
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How does increased progesterone affect the musculoskeletal system during pregnancy?
How does increased progesterone affect the musculoskeletal system during pregnancy?
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What is a notable skin change due to increased estrogen during pregnancy?
What is a notable skin change due to increased estrogen during pregnancy?
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Which symptom is linked to increased vascular engorgement caused by elevated estrogen levels during pregnancy?
Which symptom is linked to increased vascular engorgement caused by elevated estrogen levels during pregnancy?
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What is the primary effects of increased estrogen on the breasts during pregnancy?
What is the primary effects of increased estrogen on the breasts during pregnancy?
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How does progesterone contribute to changes in the uterine wall during pregnancy?
How does progesterone contribute to changes in the uterine wall during pregnancy?
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What is one effect of relaxin on the musculoskeletal system during pregnancy?
What is one effect of relaxin on the musculoskeletal system during pregnancy?
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What effect does progesterone have on body temperature during pregnancy?
What effect does progesterone have on body temperature during pregnancy?
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What is the primary role of prolactin during pregnancy?
What is the primary role of prolactin during pregnancy?
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Which cardiovascular change occurs due to the enlarged uterus during pregnancy?
Which cardiovascular change occurs due to the enlarged uterus during pregnancy?
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How does pregnancy affect the renal system?
How does pregnancy affect the renal system?
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What physiological change occurs in the gastrointestinal system during pregnancy due to organ displacement?
What physiological change occurs in the gastrointestinal system during pregnancy due to organ displacement?
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What is a common consequence of decreased iron levels in pregnant individuals?
What is a common consequence of decreased iron levels in pregnant individuals?
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How does hormonal change during pregnancy affect the thyroid gland?
How does hormonal change during pregnancy affect the thyroid gland?
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What is a potential risk associated with elevated blood volume during pregnancy?
What is a potential risk associated with elevated blood volume during pregnancy?
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What hormonal changes can result in hyperpigmentation during pregnancy?
What hormonal changes can result in hyperpigmentation during pregnancy?
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What change in the peripheral circulatory system may occur at the beginning of pregnancy?
What change in the peripheral circulatory system may occur at the beginning of pregnancy?
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Study Notes
Genetic Mutations
- Genotype: The genetic makeup of an individual; influences phenotype.
- Phenotype: Observable characteristics such as eye color and hair texture.
- Two alleles for each gene inherited from each parent, leading to dominant or recessive traits.
-
Dominant Trait: Expressed regardless of the second allele.
- Example: Huntington’s Disease.
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Recessive Trait: Expressed only if both alleles are recessive.
- Example: Sickle Cell Anemia.
- Importance of genetic testing and family history to assess inheritance risks.
Sex-Linked Gene Mutations
- Related to genes located on X or Y chromosomes.
-
X-Linked Inheritance:
- Affects both AFAB (Assigned Female At Birth) and AMAB (Assigned Male At Birth) individuals.
- AFAB expresses the trait only if both parents are carriers; AMAB expresses the trait if they carry the affected X-chromosome, even if recessive.
-
Y-Linked Inheritance:
- Only affects AMAB individuals and is expressed if they inherit the gene.
Hormones in Pregnancy
- Estrogen: Promotes ovum maturation; increases in the follicular phase leading to ovulation.
- Progesterone: Increases during the luteal phase; maintains endometrial lining post-conception.
Physiological Changes in Pregnancy
- Blood Volume: Increases leading to heightened RBC and WBC counts, cardiac output, etc.
- Breasts: Enlargement, tenderness, and tingling due to increased estrogen and progesterone.
- Uterus: Hypertrophy and increased blood flow; amenorrhea and increased contractility for labor.
- Cervix: Formation of a mucus plug for sterility.
- Vagina: Increased vascularity leading to softening and discharge.
- Respiratory System: Enhanced function; increased respiratory rate and slight hyperventilation.
- Renal System: Increased urinary frequency and risk of UTIs due to smooth muscle relaxation.
- Gastrointestinal System: Slowed digestion causing heartburn, bloating, and constipation; risk of gallstones.
- Musculoskeletal System: Increased flexibility leading to altered gait, low back pain, and risk of falls.
- Integumentary System: Increased pigmentation (e.g., linea nigra, melasma) and temperature regulation changes.
- Endocrine System: Decreased FSH leading to amenorrhea; altered fluid and electrolyte balance.
Specific Changes During Pregnancy
- Enlarged Uterus: Increases blood flow by 50-60% compared to non-pregnant state.
- Cardiovascular Changes: Decreased blood pressure initially; increased risk of hypertension in supine position.
- Renal System Changes: Dilated renal pelvis with increased risk of UTIs; changes in bladder capacity.
- Gastrointestinal Displacement: Organs shift due to uterus expansion, causing discomfort and digestive issues.
- Musculoskeletal Adjustments: Abdominal stretching and muscle separation (diastasis recti).
Hematological Changes
- Increased Blood Volume: Notable hypervolemia, anemia due to hemodilution.
- Decreased Iron Levels: Causes iron-deficiency anemia; increased demand for fetal development.
- Altered PH Levels: More acidic to inhibit bacteria growth while increasing risk for yeast infections.
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Description
Prepare for Exam 1 with this study guide focused on the expression of recessive and dominant gene mutations. You'll explore key concepts such as genotype, phenotype, and examples of genetic traits, including hereditary diseases and physical characteristics. This guide is essential for understanding basic genetics before the exam.