Genetics: Pleiotropic Effects and Sickle Cell Anemia

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What is a characteristic of a gene with pleiotropic effects?

It can affect various aspects of an organism's development or physiology

What is the consequence of having multiple alleles for a particular trait in a population?

Increased genetic variation

What is the typical number of chromosomes found in human cells?

46

What determines an individual's blood group?

The genes inherited from their parents

What is a characteristic of X-Linked traits?

They are more common due to the larger X chromosome

What determines an individual's sex in eukaryotic organisms?

Sex chromosomes

What is the name of the genetic disorder caused by a mutation in the gene that encodes the red blood cell protein called hemoglobin?

Sickle Cell Anemia

What is the function of the centromere during cell division?

To ensure proper alignment and segregation of chromosomes

What is the complex of DNA and proteins that make up the chromosome's structure?

Chromatin

What is the term for the presence of more than two alleles for a particular trait in a population?

Multiple alleles

What is the purpose of telomeres?

To protect the ends of chromosomes

What is the result of DNA replication in a chromosome?

Formation of chromatid

What is the cause of Down syndrome?

Nondisjunction during maternal meiosis

What is the result of nondisjunction during meiosis?

Gain of a chromosome

What is the term for an organism having an additional copy of a particular chromosome?

Trisomy

What is the result of Trisomy 21?

Down Syndrome

What is the karyotype of an individual with Trisomy 21?

47, XY +21

What is the cause of Edwards Syndrome?

Nondisjunction during maternal meiosis

What is the potential consequence of duplications in certain genes?

Developmental abnormalities and intellectual disabilities

What is the mechanism by which inversions occur?

During DNA repair processes

What is the result of the pericentric inversion of chromosome 9?

Increased risk of miscarriages and infertility

What is the consequence of inversions on homologous chromosomes during meiosis?

Disrupted chromosome pairing

What is the result of the translocation involving chromosomes 9 and 22?

BCRABL1 fusion gene

What type of leukemia is associated with the Philadelphia Chromosome?

Both CML and ALL

What is one of the implications of translocations?

They can lead to the development of genetic disorders and cancers

What is the primary purpose of karyotyping?

To examine an individual's chromosomes for abnormalities or variations

At what stage of cell division are chromosomes typically harvested for karyotyping?

Metaphase

What is the purpose of staining chromosomes in karyotyping?

To produce characteristic banding patterns for identification

What is the final step in the karyotyping process?

Photography and analysis

What type of sample is typically used for karyotyping?

Blood sample

This quiz covers the concept of pleiotropic effects in genetics, as well as the genetics of Sickle Cell Anemia, a recessive genetic disorder. It also touches on the idea of multiple alleles in a population.

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