Pedigree
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Questions and Answers

Which of the following features is characteristic of an autosomal recessive inheritance pattern in a pedigree?

  • The disease tends to skip generations (correct)
  • The disease appears in every generation
  • Affected individuals have at least one affected parent
  • There is no difference in transmission between males and females

Which of the following symbols in a pedigree indicates an individual who is deceased?

  • A square or circle with a diagonal line through it (correct)
  • A filled square or circle
  • A triangle without a line underneath it
  • A square or circle with a double line beneath it

How does an X-linked recessive inheritance pattern differ from an X-linked dominant pattern?

  • X-linked dominant traits can skip generations
  • X-linked recessive traits are more common in males due to only one X chromosome (correct)
  • Both patterns affect males and females equally
  • X-linked recessive traits show male-to-male transmission

Which feature in a pedigree indicates consanguinity between parents?

<p>A double horizontal line between two individuals (C)</p> Signup and view all the answers

Why do X-linked dominant traits never exhibit male-to-male transmission?

<p>Males inherit their X chromosome only from their mothers (D)</p> Signup and view all the answers

Which inheritance pattern is observed when only males are affected, and the trait is transmitted from father to son in every generation?

<p>Y-linked (B)</p> Signup and view all the answers

How can you distinguish an autosomal dominant inheritance pattern in a pedigree?

<p>Affected individuals have at least one affected parent (A)</p> Signup and view all the answers

A patient's pedigree shows that multiple siblings are affected by a genetic disorder, but neither parent is affected. What is the most likely mode of inheritance?

<p>Autosomal recessive (B)</p> Signup and view all the answers

Which feature is specific to X-linked recessive inheritance in a pedigree?

<p>Affected females pass the trait to all their sons (D)</p> Signup and view all the answers

In a pedigree, which of the following would indicate a mitochondrial inheritance pattern?

<p>Affected mothers pass the trait to all their children (C)</p> Signup and view all the answers

Which pedigree feature helps differentiate autosomal dominant from X-linked dominant inheritance?

<p>Male-to-male transmission in autosomal dominant inheritance (C)</p> Signup and view all the answers

Why are autosomal recessive disorders more likely to occur in consanguineous families?

<p>Related individuals are more likely to share recessive alleles (A)</p> Signup and view all the answers

Which of the following statements is TRUE regarding the use of a pedigree in clinical practice?

<p>Pedigrees help determine patterns of inheritance and assess risk for family members (C)</p> Signup and view all the answers

Which of the following is an EXCEPTION to the characteristics of X-linked dominant inheritance?

<p>Male-to-male transmission is common (A)</p> Signup and view all the answers

Which pedigree symbol represents a miscarriage?

<p>A triangle with a horizontal line underneath (D)</p> Signup and view all the answers

Which inheritance pattern is observed when females are more frequently affected, and the trait is passed from father to all daughters but not sons?

<p>X-linked dominant (D)</p> Signup and view all the answers

How do Y-linked inheritance patterns differ from X-linked recessive patterns?

<p>X-linked recessive traits involve carrier females (D)</p> Signup and view all the answers

Which feature of a pedigree would suggest an autosomal dominant inheritance pattern?

<p>Affected individuals always have affected parents (B)</p> Signup and view all the answers

Which pedigree feature indicates an X-linked recessive inheritance pattern?

<p>Affected males typically have carrier mothers (C)</p> Signup and view all the answers

How does an autosomal recessive inheritance pattern differ from an autosomal dominant pattern?

<p>Autosomal recessive traits often appear when both parents are carriers (A)</p> Signup and view all the answers

Which inheritance pattern would be suspected if a pedigree shows that all sons of an affected father are also affected, but daughters are unaffected?

<p>Y-linked (C)</p> Signup and view all the answers

Why is male-to-male transmission NOT observed in X-linked disorders?

<p>Fathers cannot pass their X chromosome to their sons (B)</p> Signup and view all the answers

A patient has a family history of a genetic disorder that affects only males and is passed from father to son. Which of the following is the most likely inheritance pattern?

<p>Y-linked (C)</p> Signup and view all the answers

Which of the following features would NOT be expected in an autosomal recessive inheritance pattern?

<p>Affected individuals have one affected parent (D)</p> Signup and view all the answers

Which of the following characteristics is specific to X-linked dominant inheritance?

<p>Affected fathers pass the trait to all daughters but no sons (C)</p> Signup and view all the answers

Which statement about mitochondrial inheritance is TRUE?

<p>Both males and females inherit the disorder from their mother (A)</p> Signup and view all the answers

How can you differentiate between autosomal recessive and X-linked recessive inheritance patterns in a pedigree?

<p>X-linked recessive traits typically affect more males than females (C)</p> Signup and view all the answers

Which of the following symbols represents an unaffected male in a pedigree?

<p>Empty square (A)</p> Signup and view all the answers

A woman with an X-linked recessive disorder is planning to have children. Which of the following is the correctprediction for her offspring?

<p>All her daughters will be carriers, and all her sons will be affected (C)</p> Signup and view all the answers

Which inheritance pattern can occur in both sexes but often appears more frequently in males due to their hemizygousstate?

<p>X-linked recessive (C)</p> Signup and view all the answers

Which of the following is FALSE regarding autosomal dominant inheritance?

<p>The disorder can skip generations (B)</p> Signup and view all the answers

What is the key difference between X-linked dominant and X-linked recessive inheritance?

<p>X-linked recessive affects more males than females (B)</p> Signup and view all the answers

Why do males affected by an X-linked recessive disorder typically have carrier mothers?

<p>Males inherit their single X chromosome from their mother (C)</p> Signup and view all the answers

Which inheritance pattern is characterized by males and females being equally affected, with the disorder typically skipping generations?

<p>Autosomal recessive (B)</p> Signup and view all the answers

Which of the following symbols in a pedigree indicates a female carrier of an X-linked recessive disorder?

<p>Circle half-filled or with a dot inside (D)</p> Signup and view all the answers

A family pedigree shows that a disorder is passed from an affected mother to all her children, but none of the father's children inherit the disorder. Which inheritance pattern is most likely?

<p>Mitochondrial (A)</p> Signup and view all the answers

What is the primary purpose of a pedigree in the context of genetics?

<p>To trace the inheritance of traits or diseases through multiple generations. (A)</p> Signup and view all the answers

In pedigree analysis, what does a double line connecting two individuals typically signify?

<p>Consanguinity. (A)</p> Signup and view all the answers

A pedigree shows a square and a circle connected by a single line. What does this representation indicate?

<p>Partnership or marriage. (D)</p> Signup and view all the answers

In constructing a pedigree, which of the following pieces of information is LEAST critical for accurately representing the family's genetic history?

<p>The proband's favorite hobbies. (B)</p> Signup and view all the answers

Consider a complex pedigree spanning multiple generations. An isolated case of a rare disease appears in the fourth generation, with no prior family history. All standard inheritance patterns have been ruled out. Which of the following explanations is the MOST likely, assuming complete accuracy of the pedigree?

<p>New <em>de novo</em> mutation in the affected individual. (A)</p> Signup and view all the answers

In pedigree analysis, what does a diagonal line through a symbol typically indicate?

<p>The individual is deceased. (B)</p> Signup and view all the answers

When constructing a pedigree, how should individuals within the same generation be organized?

<p>By birth order, from left to right. (A)</p> Signup and view all the answers

In a pedigree chart, where should the paternal and maternal relatives ideally be placed relative to the proband?

<p>Paternal relatives on the left, and maternal relatives on the right. (C)</p> Signup and view all the answers

Which of the following information is MOST clinically relevant to include alongside individual symbols in a pedigree chart, particularly for a specialty clinic focusing on adult-onset diseases?

<p>Age at diagnosis or onset of disease and cause of death. (C)</p> Signup and view all the answers

A 30-year-old male presents to a clinic. His mother had breast cancer at age 47. His sister is 37 years old and healthy, and his maternal grandmother had ovarian cancer at age 65. He is concerned about his risk of developing cancer. Which of the following is the MOST appropriate next step in constructing his pedigree?

<p>Gather detailed information on both maternal and paternal sides, including ages of onset and specific causes of death, focusing on cancers and related conditions. (C)</p> Signup and view all the answers

Which of the following is a key characteristic of X-linked dominant inheritance?

<p>There is no male-to-male transmission. (C)</p> Signup and view all the answers

A pedigree showing a Y-linked trait would exhibit which of the following patterns?

<p>Exclusively male-to-male transmission. (A)</p> Signup and view all the answers

In a pedigree analysis, what is a definitive characteristic of X-linked recessive inheritance?

<p>All daughters of affected males are carriers. (B)</p> Signup and view all the answers

Which of the following is a key feature of autosomal dominant inheritance in a pedigree?

<p>Male-to-male transmission is observed. (A)</p> Signup and view all the answers

What genetic scenario is most suggested when both parents are unaffected, but some of their offspring express a particular trait?

<p>Autosomal recessive inheritance. (D)</p> Signup and view all the answers

Consider a pedigree where a disease appears in siblings but not in their parents or any ancestors. If the affected individuals marry, what is the probability that their offspring will be affected, assuming the condition is autosomal recessive and they marry unaffected individuals who are not carriers?

<p>0% (B)</p> Signup and view all the answers

In a complex pedigree, you observe that a particular trait affects males more frequently than females, and affected fathers never pass the trait to their sons. What inheritance pattern is MOST likely?

<p>X-linked Recessive (C)</p> Signup and view all the answers

A researcher discovers a novel genetic disorder in a remote population. Pedigree analysis reveals that the trait appears in every generation, affects both males and females (though females are slightly more often affected), and affected males always have affected mothers, with no male to male transmission ever observed. Furthermore, when affected females have children, all their children of either sex are affected. However, the mitochondrial DNA of affected individuals does not show ANY mutations, nor do mutations seem to be present in any coding regions of any of X or Y chromosomes, based on advanced genetic sequencing techniques. What is the MOST likely mode of inheritance for this trait, considering all available evidence?

<p>A novel form of epigenetic inheritance that has not been previously characterized. (A)</p> Signup and view all the answers

In an autosomal recessive inheritance pattern, what is the genotype of parents who are carriers but do not express the trait?

<p>Heterozygous (Aa) (A)</p> Signup and view all the answers

If both parents are affected with an autosomal recessive trait, what is the likelihood that their offspring will also be affected?

<p>100% (C)</p> Signup and view all the answers

In an autosomal dominant inheritance pattern, if one parent is heterozygous (Aa) and the other is homozygous recessive (aa), what is the probability that their child will be affected?

<p>50% (B)</p> Signup and view all the answers

A pedigree reveals that only males are affected by a certain trait, and it is transmitted from fathers to their sons. Which inheritance pattern is most likely?

<p>Y-linked (C)</p> Signup and view all the answers

In X-linked recessive inheritance, if a carrier mother has a son, what is the probability that he will be affected with the trait?

<p>50% (A)</p> Signup and view all the answers

A woman who is a carrier for an X-linked recessive trait has children with an unaffected man. What is the probability that their daughter will be a carrier?

<p>50% (C)</p> Signup and view all the answers

Consider a family where the father is affected by an X-linked dominant trait and the mother is unaffected. What proportion of their children will inherit the trait?

<p>All daughters and no sons (B)</p> Signup and view all the answers

A couple, both with no family history of a particular genetic disorder, have a child diagnosed with an autosomal recessive condition. What is the probability that their next child will also have the condition, assuming they are both carriers?

<p>25% (C)</p> Signup and view all the answers

In a scenario where a trait appears to skip generations, affecting males and females equally, but only appears when both parents contribute the gene, which inheritance pattern is most likely?

<p>Autosomal recessive (A)</p> Signup and view all the answers

Contrary to standard pedigree practice, if you were charting the presence of two distinct, unrelated genetic traits within the same family, what modification to the standard symbol for an affected individual would MOST clearly represent someone affected by both traits?

<p>Split the standard symbol diagonally, filling each half with a different shading pattern representing each trait. (C)</p> Signup and view all the answers

In constructing a comprehensive pedigree, why is documenting environmental exposures of family members crucial, beyond simply noting affected/unaffected status regarding a specific genetic disease?

<p>Environmental factors can influence the penetrance and expressivity of certain genetic mutations. (B)</p> Signup and view all the answers

A researcher is investigating a novel genetic disorder. Initial pedigree analysis suggests a dominant inheritance pattern. However, they observe several instances where individuals with the presumed causative genotype (carrying at least one dominant allele) do NOT express the phenotype. What genetic phenomenon should the researcher FIRST consider to explain this discrepancy?

<p>Reduced penetrance (C)</p> Signup and view all the answers

Instead of directly asking about a disease, which query regarding family health history would MOST effectively reveal potential unreported cases of a genetically linked cardiac condition presenting with sudden, unexplained death at a young age?

<p>&quot;Have there been any instances of seemingly healthy individuals in your family dying unexpectedly at a young age?&quot; (D)</p> Signup and view all the answers

If a pedigree shows consanguinity, what genetic implication is MOST relevant when assessing risk for autosomal recessive disorders?

<p>Higher probability of shared alleles from a common ancestor. (D)</p> Signup and view all the answers

A pedigree shows a deceased individual. What does this indicate about the disease in question?

<p>The individual's passing warrants further investigation into potential genetic links. (A)</p> Signup and view all the answers

When constructing a pedigree, why is it important to arrange individuals within the same generation from left to right by birth order?

<p>It aids in visualizing the flow of inheritance and identifying potential patterns. (C)</p> Signup and view all the answers

In pedigree construction, what specific information, beyond just the indication of disease, is most clinically relevant to include alongside individual symbols, especially in a clinic focused on adult-onset diseases?

<p>Age at diagnosis or onset of symptoms. (C)</p> Signup and view all the answers

A genetic counselor is constructing a pedigree for a family presenting with a history of heart disease. To optimally orient the chart for interpretation, how should the paternal and maternal relatives ideally be placed relative to the proband?

<p>Paternal relatives on the left, maternal on the right. (C)</p> Signup and view all the answers

A researcher analyzing a complex pedigree spanning several generations notes an isolated case of a rare disease in the fourth generation, with no prior family history. Assuming complete accuracy of the pedigree and after excluding all standard inheritance patterns, which of the following explanations is the LEAST likely?

<p>The fourth-generation individual was secretly adopted and has no genetic relationship to the family. (A)</p> Signup and view all the answers

An apparently novel drug selectively targets the modified androgen receptors found ONLY in prostate cancer cells exhibiting Y-linked inheritance patterns, with no effect reported on those with X-linked inheritance: Which specific symptomatic outcome is this drug MOST likely designed to address?

<p>Alleviation of urinary retention caused by prostatic hyperplasia (C)</p> Signup and view all the answers

In an autosomal recessive condition, if both parents are known carriers, what is the probability that their first child will phenotypically express the trait?

<p>25% (B)</p> Signup and view all the answers

A genetic counselor is reviewing a pedigree where a particular trait only appears when both parents contribute the gene, and it seems to skip generations. Which inheritance pattern is MOST likely at play?

<p>Autosomal Recessive (D)</p> Signup and view all the answers

A pedigree shows a disease passed from fathers to all daughters but not sons. Which inheritance pattern is MOST likely?

<p>X-linked Dominant (A)</p> Signup and view all the answers

Pedigree analysis reveals a novel genetic disorder. The trait appears in every generation and affects both males and females. Affected males always have affected mothers, with no observations of male-to-male transmission. Assuming mutations in coding or chromosomal regions are discounted, which atypical mode of inheritance is MOST suggested?

<p>Cytoplasmic Inheritance (C)</p> Signup and view all the answers

In a pedigree analysis, an X-linked recessive disorder is suspected. Which pattern of inheritance would most strongly support this hypothesis?

<p>Unaffected carrier mothers have a 50% chance of having an affected son. (B)</p> Signup and view all the answers

If a pedigree shows that affected individuals appear in every generation and that each affected individual has at least one affected parent, what inheritance pattern is MOST likely?

<p>Autosomal Dominant (A)</p> Signup and view all the answers

For a trait to be classified as autosomal recessive, what must be true of the parents of an affected individual?

<p>Both parents are unaffected but are carriers of the trait. (C)</p> Signup and view all the answers

In the context of autosomal dominant inheritance, what is the likelihood of an affected heterozygous (Aa) individual passing the trait to their offspring?

<p>50% (B)</p> Signup and view all the answers

Why do X-linked dominant conditions exhibit a distinct pattern where affected fathers pass the trait to all their daughters but not to any of their sons?

<p>Sons inherit the Y chromosome from their father, while daughters inherit one X chromosome. (B)</p> Signup and view all the answers

What inheritance pattern is suggested when a trait appears exclusively in males within a pedigree?

<p>Y-linked (D)</p> Signup and view all the answers

In X-linked recessive inheritance, why are males more frequently affected than females?

<p>Males only need to inherit one copy of the affected X chromosome to express the trait. (C)</p> Signup and view all the answers

If a pedigree analysis reveals that a disease appears in every generation, and an affected mother transmits the disease to all her children, what inheritance pattern should be suspected?

<p>Mitochondrial (B)</p> Signup and view all the answers

In autosomal recessive disorders, consanguinity increases the likelihood of the offspring being affected. Why?

<p>Consanguineous partners are more likely to share the same recessive alleles. (B)</p> Signup and view all the answers

A novel drug is developed that inhibits the dimerization of a specific receptor tyrosine kinase (RTK). Which cellular process would be most directly affected by this drug?

<p>Signal transduction downstream of growth factors. (C)</p> Signup and view all the answers

In Huntington's disease, a neurodegenerative disorder, the underlying genetic mutation involves the expansion of CAG repeats within the huntingtin (HTT) gene. Disease severity and age of onset are inversely correlated with the number of CAG repeats. If therapy were developed that could selectively target and degrade only the expanded HTT mRNA transcripts, which of the following cellular processes would be MOST directly affected?

<p>Aberrant protein aggregation and inclusion body formation. (D)</p> Signup and view all the answers

Flashcards

Autosomal Recessive

Traits that often skip generations due to carrier parents.

Deceased Individual (Pedigree)

Diagonal line through a square or circle.

X-Linked Recessive Traits

More common in males because they only have one X chromosome.

Consanguinity (Pedigree)

Double horizontal line connecting related parents.

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X-Linked Dominant: No Male-to-Male

Males get their X from mom, Y from dad.

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Y-Linked Inheritance

Only males are affected, father-to-son transmission.

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Autosomal Dominant

Affected individuals in every generation with at least one affected parent.

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Autosomal Recessive: Affected Siblings

Likely mode of inheritance when multiple siblings are affected and parents are not.

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X-Linked Recessive: Affected Female

Affected female passes it to all her sons.

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Mitochondrial Inheritance

Mothers pass it to all offspring.

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Autosomal Dominant vs. X-Linked Dominant

Male-to-male transmission happens.

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Consanguinity and Recessive Disorders

Increases chance both parents carry the same recessive allele.

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Use of Pedigrees in Clinical Practice

Identify inheritance patterns and assess family risk.

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X-Linked Dominant Exception

Male-to-male transmission does NOT occur.

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Miscarriage (Pedigree)

Triangle symbol with a horizontal line underneath.

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X-Linked Dominant (Inheritance)

Females more frequently affected; father to all daughters but not sons.

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Y-linked vs. X-linked recessive

X-linked recessive involves carrier females, Y-linked is father-to-son only.

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Autosomal Dominant Inheritance

Affected individuals always have affected parents; no skipping generations.

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X-Linked Recessive (Pedigree)

Affected males typically have carrier mothers; no male-to-male transmission.

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Autosomal recessive - cause

Both parents are carriers.

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Y-linked Trait

All sons are also affected, but daughter are unaffected

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X-Linked Disorders- Cause

Fathers cannot pass their X chromosome to their sons, so male-to-male transmission of X-linked traits does NOT occur..

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Y-linked Trait- Pedigree

Affects only males and is transmitted directly from father to son.

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Autosomal Recessive

Affected individuals usually have unaffected carrier parents, not an affected parent

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X-linked dominance

In X-linked Dominant, The affected father can either be a daughter or a sun with one of them passing one

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Mitochonrial- Passing on

Mitochondrial inheritance is passed from mothers to all their children, regardless of gender

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X- Linked receissive.

X-linked recessive traits typically affect more males because males have only one X chromosome

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Unaffected male, Pedigree

Unaffected

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X-Linked Recessive

Affected X chromosome to all sons, so the will be affected and one affected, a;llele

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More common in males

Have only one X chromosome

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What is a pedigree?

Visual representation of a family's genetic history, showing trait or disease inheritance.

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Pedigree: Filled Symbol

Affected individuals are indicated by filled-in symbols.

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Pedigree: Male Symbol

Squares represent males in a pedigree.

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Pedigree: Female Symbol

Circles represent females in a pedigree.

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Pedigree: Consanguinity

A double line indicates parents are closely related (second cousins or closer).

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Constructing a Pedigree

Begins with the patient (proband) and extends across (siblings, cousins), up (parents, aunts, uncles), or down (children, nieces, nephews) the family tree.

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Roman Numerals (Pedigree)

Indicates the generation number in a pedigree.

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Individual Numbering (Pedigree)

Indicates the individual's position in the family by birth order from left to right.

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Pedigree Side Placement

Paternal relatives are placed on the left, and maternal relatives on the right of the proband.

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Pedigree Vital Information

Includes name, date of birth, age at diagnosis/onset, and cause of death, tailored to the relevant disease.

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X-Linked Dominant Inheritance Pattern

Affected males pass the trait to all daughters but not sons.

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Y-Linked Inheritance Pattern

Only males are affected; transmitted from father to son.

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X-Linked Recessive Inheritance Pattern

No male-to-male transmission; all daughters of affected males are carriers.

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Autosomal Dominant Inheritance Pattern

Appears in every generation; affected individuals usually have an affected parent.

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Autosomal Recessive Inheritance Pattern

Males and females equally likely to be affected; parents are usually asymptomatic carriers.

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Autosomal Recessive disorder in pedigree

Males and females are equally affected

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Inheritance of Y-Linked Pedigree

Trait passed down on the Y chromosome

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What is a pedigree chart?

Diagram showing family relationships and inheritance of traits.

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Autosomal recessive inheritance

Trait skips generations; affected child has unaffected parents.

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X-linked recessive inheritance

Males more commonly affected; no male-to-male transmission.

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What is a carrier?

Individuals with one normal and one mutated allele; no affected phenotype.

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What does homozygous mean?

Both alleles are the same at a specific gene locus.

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What does heterozygous mean?

Two different alleles at a specific gene locus.

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What is a Punnett Square?

Shows the possible combinations of alleles from parents.

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Pertinent Info for Pedigree

Shows relationships, affected/unaffected status, ethnic background, environmental exposures, consanguinity, proband, paternity, and date generated.

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Male Symbol (Pedigree)

Squares represent males in a pedigree chart.

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Female Symbol (Pedigree)

Circles represent females in a pedigree chart.

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Consanguinity

A union between two individuals who are second cousins or closer.

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Proband (Pedigree)

Patient in pedigree; pedigree construction begins here.

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Pedigree Generations

Each row represents a generation; numbered with Roman numerals.

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Sibling Order (Pedigree)

Arrangement of family within a generation on a pedigree.

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Paternal Placement (Pedigree)

Side where the paternal relatives are placed on a pedigree.

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Pedigree Details

Information included in the pedigree to indicate family health history.

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Autosomal Recessive Trait Pattern

Trait skips generations; affected child has unaffected parents (carriers).

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Autosomal Dominant Trait Pattern

Affected individuals in every generation with at least one affected parent.

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X-Linked Recessive Trait Pattern

Males more commonly affected; no male-to-male transmission.

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X-Linked Dominant Trait Pattern

Affected fathers pass it to all daughters but not sons. No male-to-male transmission.

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Y-Linked Trait Pattern

Only males are affected; trait passed from father to all sons.

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Homozygous

Having two identical alleles for a gene.

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Heterozygous

Having two different alleles for a gene.

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Punnett Square

Shows allele combinations possible from parental genotypes.

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Carrier

Unaffected individual carrying a recessive allele.

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Pedigree analysis

Visual chart of a family's genetic trait inheritance.

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Autosomal Recessive Carriers

Parents of affected individuals are usually asymptomatic carriers.

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X-Linked Recessive Carriers (Females)

All daughters of affected males are carriers.

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Autosomal Recessive Genotype

Aa x Aa produces aa offspring.

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Study Notes

  • Pedigrees are essential for identifying inheritance patterns, assessing the risk of genetic disorders in family members, and identifying carriers of recessive conditions.

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Description

Understanding inheritance patterns is crucial for analyzing genetic traits. Autosomal recessive traits often skip generations, while autosomal dominant traits do not. X-linked traits differ in expression between males and females, and Y-linked traits affect only males.

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