Population Genomics - Royal family
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Questions and Answers

The Y chromosome is only found in ______.

males

Consanguineous relationships involve individuals who are related as second cousins or ______.

closer

Haemophilia is caused by mutations in the F8 and F9 ______.

genes

For a female to be affected by X-linked recessive conditions, both her father and mother must have ______.

<p>haemophilia</p> Signup and view all the answers

The inbreeding coefficient (F) measures the frequency of autozomal genome expected to be ______.

<p>homozygous</p> Signup and view all the answers

The Habsburg jaw is characterized by protrusion of the ______.

<p>mandible</p> Signup and view all the answers

Genetic diversity is crucial for population resilience and can be impacted by reduced reproductive ______.

<p>fitness</p> Signup and view all the answers

Charles II of Spain suffered from ______ and was reproductively impotent.

<p>epilepsy</p> Signup and view all the answers

The Y chromosome does not undergo homologous ______.

<p>recombination</p> Signup and view all the answers

Consanguineous relationships keep the gene pool ______.

<p>small</p> Signup and view all the answers

Haemophilia A is caused by a mutation in the ______ gene.

<p>F8</p> Signup and view all the answers

Blood of a haemophilic lacks the ability to ______.

<p>coagulate</p> Signup and view all the answers

The inbreeding coefficient indicates the level of ______ present in a population.

<p>inbreeding</p> Signup and view all the answers

Habsburg jaw affects speech and the ability to ______.

<p>eat</p> Signup and view all the answers

A variant may have appeared ______, indicating it occurred spontaneously.

<p>de novo</p> Signup and view all the answers

Reductions in genetic diversity can increase the risk of ______.

<p>extinction</p> Signup and view all the answers

What is the primary characteristic of a monarchy?

<p>A system of governance by a single individual</p> Signup and view all the answers

What form of descent is reflected in Y-DNA studies of royal families?

<p>Patrilinear descent</p> Signup and view all the answers

What change did the Succession to the Crown Act (2013) introduce regarding royal succession?

<p>Established absolute primogeniture</p> Signup and view all the answers

Which condition is commonly associated with royal families and is characterized by difficulty in blood clotting?

<p>Haemophilia</p> Signup and view all the answers

What is a royal dynasty?

<p>A series of kings or queens from the same family</p> Signup and view all the answers

Which of the following is not a type of monarchy mentioned in the content?

<p>Federal monarchy</p> Signup and view all the answers

How does consanguineous marriage affect the gene pool?

<p>It reduces the gene pool size and genetic diversity.</p> Signup and view all the answers

Which gene is responsible for Haemophilia A?

<p>F8</p> Signup and view all the answers

Which characteristic of haemophilia primarily affects males?

<p>It is X-linked recessive.</p> Signup and view all the answers

What is the primary health risk associated with consanguineous relationships?

<p>Higher risk of recessive genetic conditions.</p> Signup and view all the answers

Which of the following statements about Queen Victoria's children's health is true?

<p>Her only son, Prince Leopold, had haemophilia.</p> Signup and view all the answers

Which dynasty is the current Y-DNA dynasty of the United Kingdom?

<p>Mountbatten</p> Signup and view all the answers

What is the inbreeding coefficient of Charles II of Spain?

<p>0.254</p> Signup and view all the answers

What genetic condition did Ferdinand I of Austria suffer from?

<p>Hydrocephaly</p> Signup and view all the answers

Which of the following best describes the impact of inbreeding on genetic diversity?

<p>Inbreeding reduces genetic diversity.</p> Signup and view all the answers

What was one of the leading health issues faced by Charles II of Spain?

<p>Epilepsy</p> Signup and view all the answers

What is a consequence of reduced genetic diversity in a population?

<p>Higher occurrence of rare recessive diseases.</p> Signup and view all the answers

Which theory is supported by the correlation between inbreeding coefficient and the Habsburg jaw?

<p>The Habsburg jaw was caused by a recessive gene.</p> Signup and view all the answers

What was unique about the marriages of Charles II of Spain?

<p>He married at an unusually late age and had no descendants.</p> Signup and view all the answers

Which of the following statements about Philip II to IV of Spain is correct?

<p>They were subject to inbreeding within their lineage.</p> Signup and view all the answers

Which statement about the Habsburg Dynasty is true?

<p>The Habsburgs held the title of Holy Roman Emperor until 1806.</p> Signup and view all the answers

What is the expected inbreeding coefficient (F) value from a parent-child union?

<p>0.250</p> Signup and view all the answers

What genetic issue is linked to the Habsburg Jaw?

<p>Protrusion of the mandible.</p> Signup and view all the answers

What percentage of marriages in the Spanish Habsburg Dynasty were consanguineous?

<p>81.8%</p> Signup and view all the answers

Which factor contributed to the extinction of the Spanish Habsburg Dynasty?

<p>High inbreeding rates.</p> Signup and view all the answers

What is a possible cause of haemophilia in royal families?

<p>De novo mutations in genes.</p> Signup and view all the answers

What does the abbreviation NM_000133 c.278-3A>G refer to?

<p>A specific mutation linked to a royal genealogy.</p> Signup and view all the answers

What is a primary consequence of having a small gene pool in royal families?

<p>Higher occurrence of rare diseases</p> Signup and view all the answers

What does patrilineal descent signify in the context of royal succession?

<p>Rights to the throne are passed through the male lineage</p> Signup and view all the answers

Which genetic condition did Charles II of Spain suffer from alongside physical disabilities?

<p>Pituitary hormone deficiency</p> Signup and view all the answers

What was the main factor contributing to the extinction of the Spanish Habsburg Dynasty?

<p>Inbreeding and its associated genetic disorders</p> Signup and view all the answers

Which of the following statements regarding the Habsburg jaw is accurate?

<p>It indicates a correlation with recessive genetic disorders.</p> Signup and view all the answers

What does a high inbreeding coefficient typically indicate regarding a population's genetic diversity?

<p>Higher occurrence of rare recessive diseases</p> Signup and view all the answers

Which of the following symptoms was NOT associated with Ferdinand I of Austria?

<p>Suicidal tendencies</p> Signup and view all the answers

What major health condition is commonly associated with royal families due to inbreeding?

<p>Haemophilia</p> Signup and view all the answers

What does the term 'royal dynasty' refer to?

<p>A succession of kings or queens from the same family</p> Signup and view all the answers

What aspect of population genetics is primarily affected by inbreeding?

<p>Reduction in genetic diversity</p> Signup and view all the answers

What role does Y-DNA play in the study of royal dynasties?

<p>It helps trace patrilineal descent and ancestry patterns in monarchies</p> Signup and view all the answers

Which royal figure was the first without descendants due to reproductive issues in the Habsburg dynasty?

<p>Charles II of Spain</p> Signup and view all the answers

How does reduced genetic diversity affect a population's reproductive capability?

<p>It limits the ability to adapt to environmental changes.</p> Signup and view all the answers

What genetic condition is referred to as 'The Royal disease'?

<p>Haemophilia</p> Signup and view all the answers

Which royal individual is known to have carrier daughters who transmitted haemophilia?

<p>Queen Victoria</p> Signup and view all the answers

What is a common risk associated with consanguineous relationships?

<p>Higher incidence of recessive conditions</p> Signup and view all the answers

How did Queen Victoria's genealogy contribute to haemophilia in her descendants?

<p>She was a carrier and had haemophilic children.</p> Signup and view all the answers

What Y-DNA dynasty follows the Windsor dynasty in the British monarchy?

<p>Mountbatten</p> Signup and view all the answers

What is one consequence of a reduced gene pool in royal families?

<p>More recessive genetic disorders</p> Signup and view all the answers

What major health issue was faced by Queen Victoria's son, Prince Leopold?

<p>Hemophilia</p> Signup and view all the answers

What was the expected inbreeding coefficient (F) from uncle-niece unions in the Spanish Habsburg Dynasty?

<p>0.250</p> Signup and view all the answers

What health issue is characterized by mandibular prognathism and is often linked to the Habsburg lineage?

<p>Mandibular deficiency</p> Signup and view all the answers

What percentage of children born to the Spanish Habsburg Dynasty died before reaching 10 years old?

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

Which condition is characterized by mutations in the F8 and F9 genes and is known as a royal disease?

<p>Hemophilia</p> Signup and view all the answers

What is the relationship that contributes to a high inbreeding coefficient observed in the Spanish Habsburg Dynasty?

<p>Uncle-niece unions</p> Signup and view all the answers

What was the inbreeding coefficient expected in a parent-child relationship, indicating a high degree of genetic similarity?

<p>0.250</p> Signup and view all the answers

What is a significant risk factor associated with consanguineous relationships?

<p>Higher chance of inheriting recessive conditions</p> Signup and view all the answers

Which gene is primarily associated with Haemophilia A?

<p>F8</p> Signup and view all the answers

Which of Queen Victoria's children was a known carrier of haemophilia?

<p>Beatrice</p> Signup and view all the answers

What is the term for a union between two individuals who are related as second cousins or closer?

<p>Consanguineous relationship</p> Signup and view all the answers

Which statement about haemophilia is correct?

<p>It is an X-linked recessive condition.</p> Signup and view all the answers

What percentage of Queen Victoria’s descendants carry the haemophilia genotype?

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

Which of the following best describes a royal dynasty?

<p>A series of Kings or Queens in the same family</p> Signup and view all the answers

Which genetic condition is most commonly associated with royal families?

<p>Haemophilia</p> Signup and view all the answers

How does a small gene pool affect royal families in terms of health?

<p>It increases the likelihood of inheriting rare diseases</p> Signup and view all the answers

Which term describes the immediate family of a King or Queen?

<p>Royal family</p> Signup and view all the answers

What is patrilineal descent in the context of royal succession?

<p>Inheritance through the father's side</p> Signup and view all the answers

What was one of the primary health concerns of the Spanish Habsburg Dynasty due to inbreeding?

<p>Mandibular Prognathism</p> Signup and view all the answers

Which royal family is notably associated with the genetic condition known as hemophilia?

<p>The Romanov Family</p> Signup and view all the answers

What was the expected inbreeding coefficient (F) from a parent-child union?

<p>0.250</p> Signup and view all the answers

Which factor significantly contributed to the extinction of the Spanish Habsburg Dynasty?

<p>Reduced Genetic Diversity</p> Signup and view all the answers

Which genetic variant is associated with the royal disease of hemophilia?

<p>NM_000133 c.278-3A&gt;G</p> Signup and view all the answers

What is the primary consequence of the Habsburg Jaw syndrome?

<p>Protrusion of the Mandible</p> Signup and view all the answers

What was a significant contributing factor to the health issues faced by Charles II of Spain?

<p>Inbreeding within the royal family</p> Signup and view all the answers

What is one of the main consequences of reduced genetic diversity in a population?

<p>Increased risk of extinction</p> Signup and view all the answers

What type of genetic disorders was Charles II of Spain suggested to suffer from?

<p>Two recessive genetic disorders</p> Signup and view all the answers

What health condition characterizes Ferdinand I of Austria?

<p>Hydrocephaly</p> Signup and view all the answers

What factor does a high inbreeding coefficient typically indicate about a population?

<p>Low genetic variation</p> Signup and view all the answers

Which of the following is a physical manifestation of inbreeding observed in members of the Habsburg dynasty?

<p>Habsburg jaw</p> Signup and view all the answers

What term describes the breeding practices in the Spanish Habsburg Dynasty?

<p>Inbreeding</p> Signup and view all the answers

What is one result of having a small gene pool in a population?

<p>Higher occurrence of recessive genetic diseases</p> Signup and view all the answers

Study Notes

Y Chromosome

  • Smaller than other chromosomes
  • Found only in males
  • Tracks paternal inheritance
  • Does not undergo homologous recombination

Consanguineous Relationships

  • Union between closely related individuals (second cousins or closer)
  • Keeps gene pool small, reducing genetic diversity
  • Increases risk of recessive conditions in offspring
  • Relatedness quantifies shared alleles at all loci

X-linked Recessive Disorders

  • Males more frequently affected; only one mutated allele needed on the X chromosome
  • If mother is a carrier of a recessive X-linked disorder, son will always be affected
  • For a female to be affected, both parents must carry the affected allele

Haemophilia

  • Blood lacks ability to clot due to missing or reduced plasma protein
  • Untreatable until the 20th century
  • F8 and F9 genes are responsible for haemophilia A and B, respectively.
  • F8 (Haemophilia A): Located at Xq28, has 26 exons, encodes coagulation factor VIII
  • F9 (Haemophilia B): Located at Xq21.1, has 8 exons, encodes coagulation factor IX

Queen Victoria's Haemophilia

  • 1995 book "Queen Victoria's Gene" questioned her legitimacy
  • Suggests mother could have been a carrier or variant appeared de novo, or she actually wasn't the daughter of the Duke of Kent

Inbreeding Coefficient (F)

  • Frequency of autosomal genome expected to be homozygous
  • Higher coefficient indicates more inbreeding
  • Decreases lifespan of children by up to 10 years

Habsburg Jaw

  • Mandible protrusion, affecting speech and eating
  • Correlation between inbreeding coefficient and mandibular prognathism score
  • Suggests Habsburg jaw caused by a recessive gene

Charles II

  • Examples of phenotypic impacts of inbreeding: delayed speech and walking, short stature, weakness, epilepsy, and reproductive impotence

Relevance to Population Genomics

  • Inbreeding and restricted gene flow reduce genetic diversity
  • Genetic diversity supports population resilience and persistence
  • Reduced diversity lowers reproductive fitness, increasing risk of extinction
  • Small gene pool & inbreeding increase occurrence of rare recessive diseases, leading to early death and infertility

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Description

This quiz covers key concepts in genetics, focusing on the Y chromosome, consanguineous relationships, X-linked recessive disorders, and haemophilia. Understand the implications of genetic inheritance patterns and the significance of specific genes in hereditary conditions.

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