BMED 342 SPRING 2024 Molecular Genetics: Mendel's Pea Shape

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What is the molecular explanation for the wrinkled peas in Mendel's experiment?

The R allele encodes Starch branching enzyme (Sbe1), while the r allele does not produce Sbe1, leading to sucrose and unbranched starch buildup.

What does the Y allele encode in Mendel's pea experiment?

The Y allele encodes Stay green enzyme (Sgr).

What happens when the r allele is present in Mendel's pea experiment?

Sucrose and unbranched starch build up, leading to wrinkled peas.

Which molecular principle states that a specific gene determines a specific protein that may affect the phenotype?

Central Dogma

What is the role of the dominant allele according to the general molecular principle?

Determines a normally functioning protein

What does the recessive allele usually do according to the general molecular principle?

Encodes a non-functioning protein

Which of the following is an example of a disease caused by a recessive allele in humans?

Cystic fibrosis

What is the frequency of sickle cell anemia in humans?

High

Which disease exhibits a vertical pattern of inheritance in pedigrees due to its dominant nature?

Marfan syndrome

What is a key aspect of pedigrees with dominant traits?

Affected children always have at least one affected parent

In autosomal dominant inheritance, what is the risk of inheriting the trait for each child of an affected parent?

50%

What characteristic distinguishes autosomal dominant inheritance from sex-linked recessive inheritance?

Males and females are equally likely to transmit the trait to their children

Which one of the following diseases is caused by a dominant allele?

Marfan syndrome

Which disease's frequency is 1/10,000 and is caused by a dominant allele?

Osteogenesis imperfecta

Which disease exhibits a high frequency and is caused by a recessive allele?

Tay-Sachs disease

What distinguishes pedigrees with dominant traits?

Affected children always have at least one affected parent

What is the molecular explanation for the green color of Mendel's peas?

The y allele encodes the Stay green enzyme (Sgr), which breaks down chlorophyll

What is the role of the R allele in determining the shape of Mendel's peas?

The R allele encodes Starch branching enzyme (Sbe1), leading to the formation of wrinkled peas

Which enzyme is not produced when the r allele is present in Mendel's pea experiment?

Starch branching enzyme (Sbe1)

According to the general molecular principle, what does a dominant allele usually determine?

A normally functioning protein

What happens when the y allele is present in Mendel's pea experiment?

Chlorophyll is not broken down, leading to green peas

In Mendel's pea experiment, what is the result of sucrose and unbranched starch build up due to the presence of the r allele?

Wrinkled peas due to sucrose and unbranched starch buildup

What is the risk of inheriting the trait for each child of an affected parent in autosomal dominant inheritance?

50%

What distinguishes pedigrees with dominant traits?

Affected children always have at least one affected parent

Which disease's frequency is 1/10,000 and is caused by a dominant allele?

Marfan syndrome

What is the role of the R allele in determining the shape of Mendel's peas?

It results in smooth peas

Which enzyme is not produced when the r allele is present in Mendel's pea experiment?

Sucrase

According to the general molecular principle, what does a dominant allele usually determine?

A specific protein that may affect the phenotype

What happens when the y allele is present in Mendel's pea experiment?

It leads to yellow peas

Which of the following is an example of a disease caused by a recessive allele in humans?

Sickle cell anemia

What is the term for the percentage of the total number of gene copies for one allele in a population?

Allele frequency

If mutations occur in gamete-producing cells, what is the likelihood that they can be transmitted to offspring?

1 in 1,000,000

What is the term for the phenomenon of a single gene determining several distinct and seemingly unrelated characteristics?

Genetic pleiotropy

What is the term for a gene with more than one common allele?

Polymorphic gene

What does a high-frequency allele of a polymorphic gene is often referred to as?

Common variant

Which allele produces yellow and black pigment in hair according to the text?

$A$

What are chance alterations of genetic material that arise spontaneously called?

Mutations

Which statement best describes the ABO blood types in humans?

The A and B alleles are codominant, while the i allele is recessive

What is a key characteristic of human histocompatibility antigens?

There are 1200 alleles for each gene

What distinguishes ABO blood type genetics from Mendel's pea experiment?

ABO blood type has multiple alleles while Mendel's peas have only two alleles

What is a significant implication of ABO blood group genetics in terms of blood transfusions?

Type AB individuals can only receive from type O donors

What is a key feature of the dominance relations in ABO blood types?

I A and I B are codominant, while i is dominant

What role do the HLA genes play in human immunity?

They facilitate an immune response to foreign antigens

Which statement best describes the number of alleles for each HLA gene?

HLA genes have 400-to-1200 alleles each

How do antibodies relate to ABO blood group genetics?

Antibodies are produced against type A and type B sugars

What is a key implication of ABO blood group genetics in terms of blood donors?

Type O individuals can donate to any other blood type

What distinguishes the number of alleles in ABO blood types from the HLA genes?

ABO blood types have only two alleles, while HLA genes have multiple alleles

Test your knowledge of the molecular explanation for Mendel’s pea shape in the context of molecular genetics, technologies, and tools. Explore the impact of the R and r alleles on starch branching enzyme and the resulting effects on pea shape.

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