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 6 7 8 9. 2 3 4 5 6 7 8 IV

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 6 7 8 9. 2 3 4 5 6 7 8 IV

Name: a. On the basis of this pedigree, what is the most likely mode of inhe
Uploaded: 2024-03-20T06:43:04.000Z
Channel: Bartleby
Description: 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. Dent disease is a rare disor

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations

Section: Chapter Questions

Problem 18QP: What is the genetic basis and phenotype for each of the following disorders (use proper genetic...

See similar textbooks

Similar questions

In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.
Which of these is not true of single nucleotide polymorphisms (SNPs)? are single base-pair variations in the genomes of the human population are genetic markers used to study the genetic basis for disease vary from 1-3 bases in length are the most common type of genetic variance
People who carry a theoretical genetic disorder (called B-disease) can be identified from a 2kb DNA sequence. People who carry this genetic disorder have a single nucleotide polymorphism that results in a change of GTATCC to GGATCC, a site that only occurs once at nucleotide number 750 in this DNA sequence. Answer the following questions based on the information provided. If you have carried out the molecular test (based on the information above) on a 100 individual and found that 24 were healthy (BB) and 26 were carriers (bb); 1) What is the ratio of heterozygous? 2) Show how can you identify the three types from the agarose gel
I have seen that this was answered as C, Why is the answer C, how is that not evidence of it being genetic? Shouldnt it be none of the above? Question: Of the following, which supports the idea that alcoholism has no genetic or a low genetic component? a) Some strains of mice select alcohol over water 75% of the time, whereas others shun alcohol. b) The concordance value is 55% for MZ twins and 28% for DZ twins. c) Biological sons of alcoholic men who have been adopted have a rate of alcoholism more like that of their adoptive fathers. d) There is a 20% to 25% risk of alcoholism in the sons of alcoholic men. e) None of these.
People who carry a theoretical genetic disorder (called B-disease) can be identified from a 2kb DNA sequence. People who carry this genetic disorder have a single nucleotide polymorphism that results in a change of GTATTC to GGATTC, a site that only occurs once at nucleotide number 750 in this DNA sequence. Answer the following questions based on the information provided. If you have carried out the molecular test (based on the information above) on a 100 individual and found that 24 were healthy (BB) and 26 were carriers (bb); 1) What is the ratio ofheterozygous?
A human gene called the β-globin gene encodes a polypeptide that functions as a subunit of the protein known as hemoglobin. Hemoglobin carries oxygen within red blood cells. In human populations, the β-globin gene can be found as the more common allele called the HbA allele, but it can also be found as theHbS allele. Individuals who have two copies of the HbS allele have the disease called sickle cell disease. Are the followingexamples a description of genetics at the molecular, cellular, organism, or population level?A. The HbS allele encodes a polypeptide that functions slightly differently from the polypeptide encoded by the HbA allele.B. If an individual has two copies of the HbS allele, that person’s red blood cells take on a sickle shape. C. Individuals who have two copies of the HbA allele do not have sickle cell disease, but they are not resistant to malaria. People who have one HbA allele and one HbS allele do not have sickle cell disease, and they are resistant to malaria.…
Which parameters are important to include when designing a GWAS (genome-wide association study) to identify genes involved in Polycystic Kidney disease in individuals of Korean ancestry? Select all that apply. Group of answer choices a. Compare Korean individuals with the disease to unaffected Korean individuals b. Pursue SNPs only in exonic loci for further study c. Pursue SNPS only in genes related to kidney development for further study d. Set strong statistical thresholds to identify SNPs related to the disease state over the general variation observed in populations e. Compare Korean individuals with the disease to every available genome for a stronger statistical power.
A. Clearly there is significant genetic variation associated with susceptibility to COVID-19. Does that mean that the heritability of COVID-19 susceptibility is close to 1? Based on your knowledge, what is the potential role of the environment in determining susceptibility to COVID-19? B. What is the utility of understanding the genetic basis of susceptibility to COVID-19 for medicine and public health? Can you think of potential applications of this knowledge?
Achondroplasia is a form of dwarfism that is inherited in humans as an autosomal dominant disorder. A survey in a small country showed that, within a two-year period, there were 24 children with normal parents born with this disorder out of a total of 16,789 births. What is the mutation rate in mutations/locus/generation? answer to the nearest 0.0001.
Are the following examples a description of genetics at the molecular, cellular, organismal, or populational level? A. People with cystic fibrosis have lung problems due to a buildup of mucus in their lungs B. The mutant CF gene encodes a chloride transporter that doesn't transport chloride ions very well. C. A defect in the chloride transporter causes a salt imbalance in lung cells.
Six single-nucleotide polymorphism (SNP) loci are known to contribute to the development of type 2 diabetes. Diabetes is certain if eight or more of the alleles at these six loci are of the “contributing” variety. An uppercase letter indicates an allele that contributes to diabetes and a lowercase symbol indicates a noncontributing allele. A married couple wants to know the probability of producing a child who is at severe risk of type 2 diabetes. Their genotypes were determined by microarray analysis and are as follows: AaBbccDDEEFf × AaBbCCDdEeFf