A mutant allele in persons with familial hypercholesterolemia (FH) causes death due to a lack of liver receptors for LDL. Susceptible persons have half the normal number of receptors, while other individuals have the normal number of receptors. In a phenotypically normal couple, the man had a female 1 cousin (on his father’s side) who died from FH; the woman had a maternal uncle with FH. Using standard symbols, draw a pedigree of these couple’s families. Write the genotypes of each family member.

A mutant allele in persons with familial hypercholesterolemia (FH) causes death due to a lack of liver receptors for LDL. Susceptible persons have half the normal number of receptors, while other individuals have the normal number of receptors. In a phenotypically normal couple, the man had a female 1 cousin (on his father’s side) who died from FH; the woman had a maternal uncle with FH. Using standard symbols, draw a pedigree of these couple’s families. Write the genotypes of each family member.

Name: A mutant allele in persons with familial hypercholesterolemia (FH) cau
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Description: A mutant allele in persons with familial hypercholesterolemia (FH) causes death due to a lack of liver receptors for LDL. Susceptible persons have half the normal number of receptors, while other individuals have the normal number of receptors. In a

Human Biology (MindTap Course List)

11th Edition

ISBN:9781305112100

Author:Cecie Starr, Beverly McMillan

Publisher:Cecie Starr, Beverly McMillan

Chapter20: Chromosomes And Human Genetics

Section: Chapter Questions

Problem 7CT: The following pedigree shows the pattern of inheritance of red-green color blindness in a family....

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The following pedigree shows the pattern of inheritance of red-green color blindness in a family. Females are shown as circles and males as squares; the squares or circles of individuals affected by the trait are filled in black. What is the chance that a son of the third-generation female indicated by the arrow will be color blind if the father is not color blind? If he is color blind?
In humans, the genetic disease cystic fibrosis is caused by a recessive allele (a). The normal (healthy) allele is dominant (A). What is the genotype of someone who has cystic fibrosis? What are the two different genotypes that a healthy person could have? If two people were both heterozygous for the cystic fibrosis gene, what fraction of their children would be likely to have this disease? Hint: Draw a Punnett square to figure it out.
A study of SNPs associated with familial hypercholesterolemia has revealed that 7 or more contributing alleles at 6 loci can lead to elevated levels of cholesterol in the blood. What is the probability that the following parents, AaBbccDDeeFF x AAbbCCDdEeFF, will have children that are susceptible to hypercholesterolemia?
In humans, a very rare dominant allele that causes the little fingerto be crooked has a penetrance of 80%. In other words, 80% of heterozygotes carrying the allele will have a crooked little finger. If ahomozygous unaffected person has children with a heterozygotecarrying this mutant allele, what is the probability that an offspring will have a little finger that is crooked?
In pedigrees, individuals are usually specified by using a Roman numeral for their generation in the chart and an Arabic number for their position (reading left to right) within that generation. If we use the letter c for the allele that causes cystic fibrosis, what are the genotypes of individuals III-3 and III-4 (the third and fourth individuals shown in generation III) in the pedigree that shows this disease?
A woman with fair skin, blond hair, and blue eyes gives birth to fraternal twins; the father has dark brown skin, dark hair, and brown eyes. One twin has blond hair, brown eyes, and light skin, and the other has dark hair, brown eyes, and dark skin. What Mendelian law does this real-life case illustrate and explain what this means in terms of the inherited alleles for these genes?
Sickle cell anemia is a disease that is caused by a mutation in the gene that produces hemoglobin. Hemoglobin carries oxygen in red blood cells. The HbA allele produces normal hemoglobin and the HbS allele produces hemoglobin that sticks together and causes red blood cells to sickle. Heterozygous individuals (HbAHbS) produce both normal and "sickle" hemoglobin so the HbA and HbS alleles are codominant. Heterozygotes do not develop sickle cell anemia and are described as having the sickle cell trait. Individuals that are homozygous for the sickle allele (HbSHbS) only produce "sickle" hemoglobin and develop sickle cell disease.A man who is homozygous for the normal allele married a woman with the sickle cell trait. What is the expected probability of this couple having a boy with the sickle cell trait? Record your answer as a value between 0 and 1 rounded to two decimal places.Answer
Sickle cell anemia is a disease that is caused by a mutation in the gene that produces hemoglobin. Hemoglobin carries oxygen in red blood cells. The HbA allele produces normal hemoglobin and the HbS allele produces hemoglobin that sticks together and causes red blood cells to sickle. Heterozygous individuals (HbAHbS) produce both normal and "sickle" hemoglobin so the HbA and HbS alleles are codominant. Heterozygotes do not develop sickle cell anemia and are described as having the sickle cell trait. Individuals that are homozygous for the sickle allele (HbSHbS) only produce "sickle" hemoglobin and develop sickle cell disease. A man with the sickle cell trait married a woman with the sickle cell trait. Determine the probability that they will have children with the sickle cell trait or sickle cell disease.Record your answer as a value between 0 and 1 rounded to two decimal places. Answer
Take the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges. The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why…
Phenylketonuria (PKU) is an inherited disease caused by a recessive allele. Individuals with PKU have two recessive alleles and have very low levels of an enzyme that is needed to properly break down proteins. If a woman and her husband are both carriers and have three children, what is the probability of each of the following? Show your math. (Hint: You can represent your probabilities as fractions or decimals, but probabilities are always between 0 and 1) a. All three children are of normal phenotype. b. One or more of the three children have the disease. c.All three children have the disease.
Marfan syndrome is a disease caused by a rare dominant allele of the fibrillin-1 gene. Fibrillin-1 is an important component of the extracellular matrix, and people with the disease-causing allele have abnormal connective tissue. An affected mother (Marta) and an unaffected father (Joe) have one unaffected daughter (Luisa - she does not exhibit any traits of the syndrome). If Luisa has a child with Nico (unaffected), what is the probability that her child will inherit Marfan syndrome? Select one: a. 50% b. 25% c. 100% d. 0% e. 75%
In mice, the trait for high cholesterol is specified by a dominant allele designated HC, whereas the wild-type allele for normal cholesterol levels is designated hc. Black fur is specified by a recessive allele designated bl, whereas the wild-type allele which gives brown fur is designated BL. The genes for both of these traits are 30cM apart on the same autosome. A brown female (#1) with high cholesterol is mated to a black male (#2) with normal cholesterol. The progeny from this cross include a brown male (#3) with high cholesterol and a black female (#4) with normal cholesterol. What is the probability that the black mouse in the progeny of the first cross will also have high cholesterol?