Genetics Study Guide for Exam 1

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Questions and Answers

What determines whether a recessive trait will be expressed in an individual?

Having two recessive alleles (correct)

Having at least one dominant allele

Having two dominant alleles

Having one recessive and one dominant allele

In the context of genetic disorders, what is the significance of family history?

It assesses the chances of recessive gene presence. (correct)

It helps diagnose diseases in individuals.

It eliminates the need for genetic testing.

It identifies dominant gene carriers only.

Which of the following is an example of a disease caused by a dominant gene mutation?

Cystic Fibrosis

Sickle Cell Anemia

Phenylketonuria

Huntington’s Disease (correct)

What is the primary difference in X-linked inheritance between AFAB and AMAB individuals?

Only AMAB can manifest a recessive X-linked gene. Signup and view all the answers

What role does FSH play in relation to estrogen during the ovarian cycle?

FSH stimulates the follicle to secrete estrogen. Signup and view all the answers

Which term describes the genetic makeup of an individual?

Genotype Signup and view all the answers

During which phase does the highest level of progesterone occur?

Secretory phase of the endometrial cycle. Signup and view all the answers

What physiological change occurs in blood volume during pregnancy?

Blood volume increases, leading to increased RBC and cardiac output. Signup and view all the answers

How would a sex-linked recessive condition most likely present in an AMAB individual?

It can express with just one copy of the gene. Signup and view all the answers

What effect does an increase in estrogen levels have on FSH and LH during ovulation?

Estrogen promotes an increase in FSH and LH levels. Signup and view all the answers

What is a necessary condition for a recessive trait to be passed on to offspring?

Both parents must carry the recessive trait. Signup and view all the answers

What happens during the luteal phase if conception does not occur?

Shedding of the uterine lining occurs along with egg release. Signup and view all the answers

Which of the following is NOT a reason for conducting genetic testing?

To determine the presence of dominant genes. Signup and view all the answers

For which type of inheritance would an individual need both partners to be carriers for expression?

X-linked recessive inheritance in AFAB individuals Signup and view all the answers

What triggers the release of the mature ovum from the follicle?

Increased levels of both FSH and LH. Signup and view all the answers

What is a consequence of decreased vascular resistance during pregnancy?

Improved blood flow and oxygen delivery to tissues. Signup and view all the answers

Which phase of the ovarian cycle coincides with ovulation?

Luteal phase. Signup and view all the answers

What role does progesterone play if conception occurs?

It promotes continual thickening of the endometrial lining. Signup and view all the answers

What effect does an increase in both RBC and WBC have during pregnancy?

Enhanced capacity for oxygen transport. Signup and view all the answers

What is the primary effect of increased progesterone on the renal system during pregnancy?

Increased risk of urinary tract infections Signup and view all the answers

How does increased estrogen impact respiratory function during pregnancy?

Induces respiratory alkalosis Signup and view all the answers

What effect does progesterone have on the gastrointestinal system during pregnancy?

Causes bloating and constipation Signup and view all the answers

What physiological change occurs in the cervix due to increased estrogen during pregnancy?

Formation of a mucus plug Signup and view all the answers

How does increased progesterone affect the musculoskeletal system during pregnancy?

Increases risk of joint injuries Signup and view all the answers

What is a notable skin change due to increased estrogen during pregnancy?

Enhanced melanin deposition Signup and view all the answers

Which symptom is linked to increased vascular engorgement caused by elevated estrogen levels during pregnancy?

Dyspnea Signup and view all the answers

What is the primary effects of increased estrogen on the breasts during pregnancy?

Tenderness and enlargement Signup and view all the answers

How does progesterone contribute to changes in the uterine wall during pregnancy?

Causes hypertrophy of walls Signup and view all the answers

What is one effect of relaxin on the musculoskeletal system during pregnancy?

Enhances joint mobility Signup and view all the answers

What effect does progesterone have on body temperature during pregnancy?

Results in increased perspiration due to raised body temperature Signup and view all the answers

What is the primary role of prolactin during pregnancy?

Facilitating lactation and breast development Signup and view all the answers

Which cardiovascular change occurs due to the enlarged uterus during pregnancy?

Compression of the Inferior Vena Cava in supine position Signup and view all the answers

How does pregnancy affect the renal system?

Dilatation of the renal pelvis and ureters that decreases motility Signup and view all the answers

What physiological change occurs in the gastrointestinal system during pregnancy due to organ displacement?

Potential for constipation due to displacement of organs Signup and view all the answers

What is a common consequence of decreased iron levels in pregnant individuals?

Iron-deficiency anemia leading to fatigue Signup and view all the answers

How does hormonal change during pregnancy affect the thyroid gland?

It leads to hyperplasia of the thyroid with increased vascularity Signup and view all the answers

What is a potential risk associated with elevated blood volume during pregnancy?

Increased likelihood of hypervolemia and edema Signup and view all the answers

What hormonal changes can result in hyperpigmentation during pregnancy?

Increase in both progesterone and estrogen levels Signup and view all the answers

What change in the peripheral circulatory system may occur at the beginning of pregnancy?

Decreased blood pressure due to altered peripheral resistance Signup and view all the answers

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.
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.