Concept explainers
a.
To determine: The most likely mode in the inheritance of each of these
Introduction. The different forms of an allele in two organisms of the species can result in changes in their appearance even though their genetic composition is highly similar. These are gene polymorphisms that account for the change in the appearance of genetically similar organisms.
b.
To determine: The genotypes of all members in generation III.
Introduction. The law of segregation proposes that the alternative forms of the genes that are known as alleles separate during the formation of gametes. These gametes get one of the alleles that constitute the gene. Thus, during the formation of the zygote, these independent gametes come to fuse to provide the allele pair to the offspring.
c.
To determine: The probability of the first child to be dwarf and have a cataract and the probability of normal child.
Introduction. The dominant allele masks the expression of the recessive allele. The dominant allele is expressed in homozygous and heterozygous genotype while the recessive phenotype is only expressed under homozygous conditions.
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Introduction To Genetic Analysis
- *22. Dent disease is a rare disorder of the kidney in which reabsorption of filtered solutes is impaired and there is progressive renal failure. R. R. Hoopes and colleagues studied mutations associated with Dent disease in the following family (R. R. Hoopes et al. 2005. American Journal of Human Genetics 76:260-267): II 2 3 4 5 II 3 4 5 6 7 8 IV a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease? Explain your reasoning. b. Based your answer to part a, give the most likely genotypes for all family members in the pedigree.arrow_forwardThe DNA of every individual in the pedigree shown in image B (below) has been sequenced at the causative locus, all the non-shaded individuals are wild type apart from III.1 and III.6. III.1 and III.6 have both been proven to have the causative allele for the condition but they do not exhibit any of the phenotypic signs or symptoms. Based on this pedigree, what is the level of penetrance for the condition? Please give your answer as a percentage to one decimal place, give the number only, no percentage symbol. Given the information above I calculate the level of penetrance seen in image B to be "Blank" 1 percent.arrow_forwardThe DNA of every individual in the pedigree shown in image B (below) has been sequenced at the causative locus, all the non- shaded individuals are wild type apart from III.1 and III.6. III.1 and III.6 have both been proven to have the causative allele for the condition but they do not exhibit any of the phenotypic signs or symptoms. Based on this pedigree, what is the level of penetrance for the condition? Please give your answer as a percentage to one decimal place, give the number only, no percentage symbol. ANSWER: Given the information above I calculate the level of penetrance seen in image B to be Blank 1 percent. A KEY Homozygous Homozygous Heterozygous Heterozygous Wild Type Male Female Male Female Male Note: Completely red symbol denotes an individual exhibiting the phenotype of interest CI || III IV V 1/4 1/2 1/2 1/2 1/2 Wild Type Female 1/4 1/2 Affected Known carrier Affected female Normal female Affected male Normal male D ●●●arrow_forward
- a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease? Explain your reasoning. b. Based your answer to part a, give the most likely genotypes for all family members in the pedigree.arrow_forwardThe DNA of every individual in the pedigree shown below has been sequenced at the causative locus. All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this autosomal dominant condition, but they exhibit no symptoms. Based on this small pedigree, what is the level of penetrance for the condition? Please give your answer as a WHOLE percentage, give the number only, no percentage symbol. Answer: The level of penetrance for the condition shown in the pedigree below is Blank 1 percent. 1:1 1:2 Il:1 I1:2 I1:3 Il:4 I1:5 I1:6 II:1 I:2 III:3 III:4 III:3 III:6 III:7 III:8 III:9 III:10 III:11 III12 II:13 III:14 IV:1 | IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8 IV:9 IV:10 IV:11 IV:12 IV:13 IV:14 IV:15 IV:16 IV:17 IV:18 IV:19 V:1 V:2 V:3 V:4 V:5 V:6 V:7 V:8 V:9 V:10 V:11 V:12arrow_forwardA. Look at the pedigree, and DISREGARD individual II-8 for the moment. Is the pattern of inheritance of Unetan syndrome dominant or recessive? You may assume that the gene is FULLY-PENETRANT in this family. Please give two specific reasons that support your conclusion. B. Now, looking at BOTH the pedigree AND at the Southern blot, is this trait autosomal, X-linked, or Y-linked? Please give two specific reasons that support your conclusion. Once again, disregard II-8 for the moment. One of your two reasons must refer specifically to evidence present in the Southern blot. C. Define the gene alleles associated with Unetan syndrome. Your alleles MUST be consistent with the pattern of inheritance, AND your genetic notation must be consistent with that used throughout the course. Unetan syndrome allele: ________ Normal allele: ________arrow_forward
- BRCA1 is mutated in a large percentage of hereditary breast and ovarian cancers. BRCA1 protein serves as a key enzyme in repairing DNA double-strand breaks. More than 800 mutations in the BRCA1 are clinically significant. This collection of mutations include missense mutations, small deletions, and large rearrangements that result in a protein with reduced function or no protein product. Inheritance of one mutant allele of BRCA1 is associated with 70-80% lifetime risk of developing breast cancer in females. How is this possible? Select all that apply. The loss of the mutant chromosome during mitosis A point mutation in the allele of BRCA1 inherited from the normal parent Repair of the heteroduplex region containing a mismatch between the normal DNA strand and the mutant DNA strand Nondisjunction of the normal chromosome during mitosis A deletion of the gene copy inherited from the affected parent Mitotic recombination in the region between the BRCA1 gene and the…arrow_forward9, 6 77 10 9I The following 5 population genetics questions refer to this introduction: "Tay-Sachs disease is inherited as an autosomal recessive, caused by the absence of hexosaminidase-A (Hex-A). Without Hex-A a lipid accumulates in cells, particularly in the brain, resulting in homozygous recessive individuals regressing in mental and physical function until death in early childhood. Heterozygotes have abnormal Hex-A activity but manifest no disease symptoms. In a large eastern European population, the frequency of Tay-Sachs disease is 3 percent. Using this information answer the following." a) If the population is assumed to be in Hardy-Weinberg equilibrium with respect to Tay-Sachs, what is the frequency of the allele that causes Tay-Sachs (answer in two decimal points [DP])? b) What would be the frequency of heterozygotes (answer in 2 DP)? Assessment Navigator c) Assuming no assortative mating, what is the probability of two heterozygotes mating (answer in 2DP)? 1 2 3 d) In…arrow_forwardillustrate several applications of the chi-square test pertinent to genetics.arrow_forward
- 151 Phenylketonuria (PKU) is a disorder caused by a recessive allele. Two carrier individuals have progeny. Answer the following questions in order and show solutions whenever relevant. Indicate the gene notation. Derive the expected genotypic and phenotypic ratios.arrow_forwardIn your attempts to identify a genetic basis for rheumatoid arthritis in humans, you have DNA samples from three large unrelated families in which individuals with varying severity of rheumatoid arthritis are found. From your analysis of various SNPs, you find that the same four unlinked loci consistently show a correlation with the most severe cases from all three families. Based on your observations, which of the following hypotheses best describes the genetic control of rheumatoid arthritis? ос Rheumatoid arthritis is the result of phenocopy by the environment Different genes regulate the disease in different families Rheumatoid arthritis is controlled by a single X-linked recessive trait Rheumatoid arthritis is controlled by polygenic (or quantitative) traits Rheumatoid arthritis is controlled by a single autosomal dominant traitarrow_forwardA DNA variant has been found linked to a rare autosomal dominant disease in humans and can thus beused as a marker to follow inheritance of the diseaseallele. In an informative family (in which one parentis heterozygous for both the disease allele and the DNA marker in a known chromosomal arrangementof alleles, and his or her mate does not have the samealleles of the DNA variant), the reliability of such amarker as a predictor of the disease in a fetus is related to the map distance between the DNA markerand the gene causing the disease.Imagine that a man affected with the disease(genotype Dd) is heterozygous for the V1and V2forms of the DNA variant, with form V1on the samechromosome as the D allele and form V2on the samechromosome as d. His wife is V3V3dd, where V3isanother allele of the DNA marker. Typing of the fetusby amniocentesis reveals that the fetus has the V2andV3variants of the DNA marker. How likely is it thatthe fetus has inherited the disease allele D if thedistance…arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning