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Albinism is a recessive trait in humans (see the introduction to Chapter 1 ). A geneticist studies a series of families in which both parents have pigmentation and at least one child has albinism. The geneticist reasons that both parents in these families must be heterozygotes and that albinism should appear in \(1 / 4\) of their children. To his surprise, the geneticist finds that the frequency of albinism among the children of these families is significantly greater than \(1 / 4 .\) Can you think of an explanation for the higherthan-expected frequency of albinism among these families?

Short Answer

Expert verified
Non-random or assortative mating can lead to a higher frequency of albinism than expected.

Step by step solution

01

Understanding Albinism as a Recessive Trait

Albinism is a genetic condition caused by a mutation in one of several genes which results in reduced or absent pigmentation. The geneticist understands that this trait is recessive, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express albinism. When both parents are heterozygous for the trait (carriers, but not affected), there is a 25% chance that a child will inherit both recessive alleles and thus be albino.
02

Reviewing the Probabilities

In the standard Mendelian model, if both parents are heterozygous (carried with one recessive allele each), the probability distribution for the children's genotypes would be: 25% homozygous dominant (normal pigmentation), 50% heterozygous (carrier, not expressing albinism), and 25% homozygous recessive (albino). This distribution reflects the 1:2:1 ratio of genotype outcomes.
03

Identifying Possible Explanation for Higher Frequency

The geneticist notes a significantly higher occurrence of albinism than the expected 25%. One possible explanation is non-random mating or assortative mating within the studied families. Such families may have a history of albinism, leading them to marry others with similar genetic backgrounds, thereby increasing the likelihood of recessive alleles pairing. Environmental or selection factors might also play a role, such as albinism possibly not affecting survival or reproduction rates in these contexts.

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Key Concepts

These are the key concepts you need to understand to accurately answer the question.

Recessive Trait
In genetics, a recessive trait is one that is only expressed when two recessive alleles are present. For albinism, this means that the trait will only show up if an individual inherits two copies of the albinism gene—one from each parent. Recessive traits like albinism often remain hidden in those who carry just one copy of the gene. These carriers are typically unaffected because the presence of a dominant allele (such as a pigmentation gene) masks the recessive allele.

Understanding recessive inheritance is crucial when studying genetic conditions like albinism. In families where albinism is observed, it is often because both parents carry a recessive allele despite exhibiting normal pigmentation. This hidden trait might surprise families unaware of their carrier status.
Heterozygous
The term heterozygous refers to an organism having two different alleles for a particular gene. When it comes to traits like albinism, a heterozygous individual carries one allele for regular pigmentation and one allele for albinism. Since albinism is recessive, such an individual will not show signs of the condition but is still a carrier.

Heterozygous carriers play a significant role in the transmission of recessive traits. In the context of the geneticist's study, understanding that each parent is likely heterozygous provides insight into why albinism can still appear in their children even though neither parent visibly displays the condition themselves.
Mendelian Genetics
Mendelian genetics forms the basis for understanding how traits are inherited through generations. It is based on Gregor Mendel’s laws of inheritance, which describe how genetic traits are passed down from parents to offspring using dominant and recessive alleles.

Mendel's principles can predict genotype probabilities, explaining the emergence of recessive conditions such as albinism. According to Mendelian rules, if both parents are heterozygous, each child has a 25% chance of being homozygous recessive (like albino), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous dominant (non-carrier). This 1:2:1 ratio is foundational in predicting such genetic outcomes.
Genotype Probability
When calculating the likelihood of genetic traits occurring in offspring, genotype probability is a key concept. Using Punnett squares and understanding allelic combinations is vital to predict these probabilities.

In a typical scenario where both parents are heterozygous for albinism, the expected probability for a child to be albino is 25%. However, deviations may occur due to factors like assortative mating, significantly altering observed genotype frequencies. By looking at these probabilities, researchers attempt to rationalize unexpected outcomes such as higher instances of recessive traits in specific populations.
Assortative Mating
Assortative mating is a concept where individuals choose partners based on certain traits, leading to more frequent pairings of similar genetic backgrounds. In genetics, this results in increased likelihood of offspring inheriting specific genetic conditions.

In the situation studied by the geneticist, couples may be more likely to have shared ancestry or backgrounds that predispose them to certain traits, like carrying recessive alleles for albinism. This non-random mating could result in a higher-than-expected number of children with albinism. This understanding highlights how human behaviors and societal norms can impact genetic distribution beyond simple Mendelian inheritance.

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Most popular questions from this chapter

In which stages of mitosis and meiosis are the principles of segregation and independent assortment at work?

Two distinct phenotypes are found in the salamander Plethodon cinereus: a red form and a black form. Some biologists have speculated that the red phenotype is due to an allele that is dominant to an allele for black. Unfortunately, these salamanders will not mate in captivity, so the hypothesis that red is dominant to black has never been tested. One day, a genetics student is hiking through the forest and finds 30 female salamanders, some red and some black, laying eggs. The student places each female with her eggs (about 20 to 30 eggs per female) in a separate plastic bag and takes them back to the lab. There, the student successfully raises the eggs until they hatch. After the eggs have hatched, the student records the phenotypes of the juvenile salamanders, along with the phenotypes of their mothers. Thus, the student has the phenotypes for 30 females and their progeny, but no information is available about the phenotypes of the fathers. Explain how the student can determine whether red is dominant to black with this information on the phenotypes of the females and their offspring.

The following two genotypes are crossed: \(A a B b\) Cc dd \(E e \times A a\) \(b b\) Cc Dd Ee. What will the proportion of the following genotypes be among the progeny of this cross? a. \(A a B b\) Cc Dd Ee b. Aa bb cc dd ee c. aa bb cc dd ee d. \(A A B B C C D D E E\)

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