Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 6, Problem 25QP
Albinism is caused by an autosomal recessive allele of a single gene. An albino child is born to
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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…
Does a single fingerprint pattern run in your family? Why are fingerprints unique to every individual?
In polygenic inheritance, explain the many different types of fingerprint pattern?
Why are genetic variants with large effects on traits generally rarer than those with smaller effects? Explain how this relates to the observation that the heritability of common diseases is driven by common variants
Chapter 6 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 6 - Genetics in Practice case studies are...Ch. 6 - Genetics in Practice case studies are...Ch. 6 - Analyzing Karyotypes 1. Originally, karyotypic...Ch. 6 - Given the karyotype shown at right, is this a male...Ch. 6 - A colleague e-mails you saying that she has...Ch. 6 - What are the two most commonly used methods of...Ch. 6 - Prob. 5QPCh. 6 - Discuss the following sets of terms: a. trisomy...Ch. 6 - What chromosomal abnormality can result from...Ch. 6 - Tetraploidy may result from: a. lack of...
Ch. 6 - A cytology student believes he has identified an...Ch. 6 - An individual is found to have some tetraploid...Ch. 6 - A spermatogonial cell undergoes mitosis before...Ch. 6 - A teratogen is an agent that produces nongenetic...Ch. 6 - As a physician, you deliver a baby with protruding...Ch. 6 - Variations in Chromosome NumberAneuploidy Describe...Ch. 6 - A woman gives birth to monozygotic twins. One boy...Ch. 6 - Assume that a meiotic-nondisjunction event causes...Ch. 6 - Prob. 17QPCh. 6 - What is the genetic basis and phenotype for each...Ch. 6 - The majority of nondisjunction events leading to...Ch. 6 - Prob. 20QPCh. 6 - If all the nondisjunction events leading to Turner...Ch. 6 - Identify the type of chromosomal aberration...Ch. 6 - Describe the chromosomal alterations and phenotype...Ch. 6 - A geneticist discovers that a girl with Down...Ch. 6 - Albinism is caused by an autosomal recessive...Ch. 6 - Fragile-X syndrome causes the most common form of...
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- The following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.arrow_forwardSkin color in humans is determined by polygenic inheritance, which means the more dominant alleles there are, the darker the skin color will be. A medium-toned skinned woman (AaBb) has a child with another medium-toned skinned man (AaBb). What is the probability of them having a very dark-toned skinned child? (Hint: the genotype is homozygous dominant)arrow_forwardThe attached image is a pedigree of a family with a history of sickle cell anemia (the individuals with the filled-in symbols have the disease and no new mutations are occurring in any individual). Sickle cell anemia is inherited in an autosomal recessive manner. What is the probability that the individual with the question mark (?) will get the disease? a) 1/4 b) 1/2 c) 2/3 d) 1arrow_forward
- The pedigree below shows a family affected by a disease. Assume that the individuals marked with an asterisk (*) do not carry any allele associated with the affected phenotype, no other mutation spontaneously occurred, and complete penetrance. Answer the following questions below. Use the notation XR for the allele associated with the dominant phenotype and Xr for the allele associated with the recessive phenotype. Q1) Give the genotypes for as many individuals in the pedigree as possible.arrow_forwardA pedigree analysis was performed on the family of a man with schizophrenia. Based on the known concordance statistics, would his MZ twin be at high risk for the disease? Would the twins risk decrease if he were raised in an environment different from that of his schizophrenic brother?arrow_forwardCystic fibrosis is an autosomal disease that mainly affects the white population, and 1 in 20 whites are heterozygotes. Genetic testing can diagnose heterozygotes. Should a genetic screening program for cystic fibrosis be instituted? Should the federal government fund it? Should the program be voluntary or mandatory, and why?arrow_forward
- The young woman shown at right has albinismvery pale skin, white hair, and pale blue eyes. This phenotype is due to the absence of melanin, which imparts color to the skin, hair, and eyes. It typically is caused by a recessive allele. In the following situations, what are the probable genotypes of the father, the mother, and their children? a. Both parents have normal phenotypes; some of their children are albino and others are not. b. Both parents and all their children are albino. c. The mother is not albino, the father is albino, and one of their four children is albino.arrow_forwardFamilial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?arrow_forwardPedigree Analysis Is a Basic Method in Human Genetics Pedigree analysis permits all of the following except: a. an orderly presentation of family information b. the determination of whether a trait is genetic c. the determination of whether a trait is dominant or recessive d. an understanding of which gene is involved in a heritable disorder e. the determination of whether a trait is sex-linked or autosomalarrow_forward
- Both Duchenne muscular dystrophy and color blindness are caused by recessive alleles. DMD, unlike color blindness, nearly always occurs in males. Explain why.arrow_forwardYou have a true-breeding strain of miniature-winged fruit flies, where this wing trait is recessive to the normal long wings. How would you show whether the miniature wing trait is sex-linked or autosomal?arrow_forwardThis pedigree traces the inheritance of a trait in humans. Based on this pedigree, is the allele for this disease dominant or recessive? Is it sex-linked? Explain. What genotypes are most probable for the individuals labeled 4, 7, and 10?arrow_forward
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY