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Questions and Answers

Why do some communities/ethnic groups have different risk of inherited genetic disorders than the general population?

  • Due to increased genetic variation within endogamous individuals leading to higher risk of inherited genetic disorders
  • Due to founder effect and reduction in genetic variation caused by migration or isolation of a small number of endogamous individuals from a large population (correct)
  • Due to random genetic mutations occurring more frequently in endogamous communities
  • Due to genetic recombination patterns unique to endogamous individuals

What is a common characteristic of groups practicing extensive endogamy?

  • Preference for diverse genetic traits
  • Conscious choice to preserve cultural/religious identity (correct)
  • Higher likelihood of genetic recombination
  • Tendency to encourage intermarriage with other communities

What is the Ellis van Creveld Syndrome commonly observed in the Pennsylvania Amish community characterized by?

  • Neurological abnormalities and cognitive impairments
  • Increased susceptibility to infectious diseases
  • High occurrence of autoimmune disorders
  • Short stature, polydactyly, abnormality of nails and dentition, cardiac defects (correct)

What is the allele frequency of Ellis van Creveld Syndrome in the Pennsylvania Amish community?

<p>7% (A)</p> Signup and view all the answers

Which of the following is the most likely cause for the increased frequency of a mutated allele for FANCC in the endogamous Ashkenazi Jewish population in America?

<p>It is likely that the founder population of immigrating Ashkenazi Jews had a higher frequency of this mutation than the general population (C)</p> Signup and view all the answers

What is the most appropriate method for determining if individuals/couples are heterozygous (Aa) for cystic fibrosis with a view to planning pregnancy?

<p>Easier way to test – blood spot test – blood level of immuno reactive tripsinogen IRT (C)</p> Signup and view all the answers

What is a key consideration for population screening of genetic conditions?

<p>Something that is a useful diagnostic test is not necessarily a good population screening test (C)</p> Signup and view all the answers

What is cystic fibrosis in terms of inheritance pattern?

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

What is the main purpose of screening newborns for genetic conditions?

<p>To provide early detection and intervention (C)</p> Signup and view all the answers

What does the term 'Frame Shift Mutation' refer to?

<p>A mutation that puts the trinucleotide sequences that code for an amino acid out of order (C)</p> Signup and view all the answers

What is the key factor in defining a discrete population for purposes of genetics?

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

What is a potential consequence of the Founder Effect?

<p>High frequency of a specific allele variant in a specific population (C)</p> Signup and view all the answers

What is the founder effect?

<p>A phenomenon where a small group of related people establishes a new population, leading to a limited gene pool (B)</p> Signup and view all the answers

What is the main cause of Fanconi Aplastic Anaemia (FA)?

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

What is the role of the FA pathway?

<p>Fixing DNA damage during DNA replication (C)</p> Signup and view all the answers

Why do Ashkenazi Jews have a relatively high incidence of inherited genetic diseases?

<p>Genetic bottleneck and endogamy (D)</p> Signup and view all the answers

What led to a 90% reduction in Tay-Sachs disease births in North America between the 1970s and 1990s?

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

What is the cause of Cystic Fibrosis?

<p>Mutations in the CFTR gene (C)</p> Signup and view all the answers

What is the prevalence of Fanconi Aplastic Anaemia (FA)?

<p>1 to 5 per million (B)</p> Signup and view all the answers

What is the main method to reduce disease births in specific populations?

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

What is the primary factor contributing to the high incidence of inherited genetic diseases in the Ashkenazi Jewish population?

<p>Genetic bottleneck and endogamy (B)</p> Signup and view all the answers

What is the primary cause of genetic dilution of the founder effect?

<p>Exogamy (marrying unrelated people) (A)</p> Signup and view all the answers

How does the prevalence of the p.F508del mutation in Cystic Fibrosis vary across populations?

<p>88% in Denmark, 50% in Italy, and about 30% in Turkey (C)</p> Signup and view all the answers

What is the role of endogamy in the prevalence of inherited genetic diseases?

<p>It increases the likelihood of genetic diseases due to limited gene pools (B)</p> Signup and view all the answers

Flashcards

Founder Effect

A phenomenon where a small group sets up a new population, limiting genetic diversity.

Endogamy

A practice of marrying within a specific community to preserve cultural identity.

Ellis van Creveld Syndrome

A genetic disorder common in the Amish, characterized by short stature and polydactyly.

Allele Frequency

The relative frequency of an allele at a genetic locus in a population.

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FANCC Mutation

Increased frequency of a mutated allele in Ashkenazi Jews due to founder effect.

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Cystic Fibrosis Inheritance

An autosomal recessive genetic disorder affecting the CFTR gene.

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Population Screening

Testing a group to identify individuals at risk of genetic disorders.

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Frame Shift Mutation

A mutation that alters the reading frame of the genetic code.

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Genetic Bottleneck

A sharp reduction in population size leading to reduced genetic diversity.

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Carrier Screening

Testing to identify individuals who carry a gene for a recessive disorder.

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Fanconi Aplastic Anaemia (FA)

A rare genetic disorder caused by autosomal recessive variants.

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Tay-Sachs Disease Reduction

Carrier screening led to a 90% decrease in Tay-Sachs births in North America.

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CFTR Gene

The gene where mutations lead to cystic fibrosis.

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Prevalence of FA

Fanconi Aplastic Anaemia occurs at 1 to 5 cases per million people.

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Genetic Dilution

Reduces the effects of the founder effect through diverse mating.

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Prevalence Variation of p.F508del

The mutation frequency of cystic fibrosis differs across populations.

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Population Definition in Genetics

A discrete population is defined by its mating patterns.

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Role of Endogamy

Endogamy increases genetic disease likelihood due to limited gene pools.

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High Risk of Genetic Disorders

Some communities have heightened risk due to migration and isolation.

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Cystic Fibrosis Purpose of Screening

Newborn screening aims at the early detection of cystic fibrosis.

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Main Cause of FA

Fanconi Aplastic Anaemia is largely due to autosomal recessive genetic variants.

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Genetic Conditions Screening Considerations

Not every good test is appropriate for population screening.

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Study Notes

Founder Effects and Genetic Diseases in Specific Populations

  • Founder effect occurs when a relatively discrete breeding sub-population (endogamy) derives from a small group of related people (founders)
  • Exogamy (marrying unrelated people) dilutes or diminishes the founder effect
  • Fanconi Aplastic Anaemia (FA) is a rare genetic syndrome characterized by short stature, various congenital abnormalities, bone marrow failure, and cancer predisposition
  • FA is autosomal recessive, with at least 15 genetic variants associated with distinct disease profiles
  • The FA pathway is responsible for fixing DNA damage during DNA replication, and about 20% of homozygotes develop cancer
  • The overall prevalence of FA is 1 to 5 per million, with carrier frequencies varying across populations
  • Ashkenazi Jews have a relatively high incidence of inherited genetic diseases due to a genetic bottleneck and endogamy
  • The current Ashkenazi Jewish population in the US is derived from a limited number of founders with extensive intermarriage
  • Carrier screening for Tay-Sachs disease in North America resulted in a 90% reduction in disease births between the 1970s and 1990s
  • Each screening program needs to be appraised for viability, effectiveness, and appropriateness in each target population
  • Cystic Fibrosis is caused by mutations in the CFTR gene and has a wide range of manifestations, affecting multiple organs
  • The most common mutation in Cystic Fibrosis is p.F508del, with varying frequencies across different populations, such as 88% in Denmark, 50% in Italy, and about 30% in Turkey

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Genetics Flipped Lesson 9.PDF

Description

Test your knowledge of founder effects and genetic diseases in specific populations with this quiz. Explore the impact of endogamy, the prevalence of rare genetic syndromes like Fanconi Aplastic Anaemia, and the genetic variations associated with diseases such as Tay-Sachs and Cystic Fibrosis. Understand the importance of carrier screening and the implications of genetic bottlenecks in populations like Ashkenazi Jews.

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