The following pedigree shows the inheritance of a mutation that causes the mitochondrial disease MERFF. Below each individual who carries the mutation is the level ofseverity of the disease (mild, moderate, or severe).Imildоооmild moderatemoderate severemildWhich of the following statements likely explain this observation? (Select all correct answers.)Individual 1.1 is heteroplasmic for the mutation that causes MERFFIndividual 1.1 is homoplasmic for the mutation that causes MERFFIndividual 1.1 is homozygous for the mutation that causes MERFF

Name: The following pedigree shows the inheritance of a mutation that cause
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: The following pedigree shows the inheritance of a mutation that causes the mitochondrial disease MERFF. Below each individual who carries the mutation is the level ofseverity of the disease (mild, moderate, or severe).Imildоооmild moderatemoderate s

The question is asking which of the three possibilities (heteroplasmic, homoplasmic, or homozygous)…

Answered: inheritance of a mutation that causes…

Science

Biology

inheritance of a mutation that causes the mitochondrial disease MERFF.

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter10: From Proteins To Phenotypes

Section: Chapter Questions

Problem 11QP: a. If an individual who is homozygous for the mutation found in individual 2 and heterozygous for...

See similar textbooks

Similar questions

Phenylketonuria and alkaptonuria are both autosomal recessive diseases. If a person with PKU marries a person with AKU, what will the phenotype of their children be?
In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called collagen (type 3 A1). Collagenis found in the extracellular matrix that plays an important role inthe formation of skin, joints, and other connective tissues. Peoplewith Ehler-Danlos syndrome have extraordinarily flexible skin andvery loose joints. The following pedigree contains several individualsaffected with this syndrome, shown with black symbols. Basedon this pedigree, does the syndrome follow autosomal recessive,autosomal dominant, X-linked recessive, or X-linked dominantinheritance? Explain your reasoning.
A female patient 19 years old, whose symptoms areanemia and internal bleeding due to a massive buildupof leukemic white blood cells, is diagnosed withchronic myelogenous leukemia (CML). Karyotypeanalysis shows that the leukemic cells of this patientare heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of thenormal, nonleukemic cells of this patient contain thetranslocation. Which of the following statements istrue and which is false?a. The translocation results in the inactivation (loss offunction) of a tumor-suppressor gene.b. The translocation results in the inactivation (loss offunction) of an oncogene.c. There is a 50% chance that any child of this patientwill have CML.d. This patient is a somatic mosaic in terms of thekaryotype.e. DNA extracted from leukemic cells of this patient,if taken up by normal mouse tissue culture cells,could potentially transform the mouse cells intocells capable of causing tumors.f. The normal function of the…
In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?
Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called collagen (type 3 A1). Collagenis found in the extracellular matrix that plays an important role inthe formation of skin, joints, and other connective tissues. Peoplewith Ehler-Danlos syndrome have extraordinarily flexible skin and very loose joints. The pedigree below contains several individualsaffected with this syndrome, shown with black symbols. Based onthis pedigree, does the syndrome appear to follow autosomalrecessive, autosomal dominant, X-linked recessive, or X-linkeddominant inheritance? Explain your reasoning.
In humans, a rare dominant disorder known as nail-patella syndromecauses abnormalities in the fingernails, toenails, and kneecaps.Researchers have examined family pedigrees with regard to thisdisorder and have also examined the blood types of individualswithin each pedigree. (A description of blood genotypes is foundin Chapter 4.) In the following pedigree, individuals affected withnail-patella disorder are shown with filled symbols. The genotypeof each individual with regard to ABO blood type is also shown.Does this pedigree suggest any linkage between the gene thatcauses nail-patella syndrome and the gene that causes blood type?
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.What is the percentage level of penetrance for the condition in the diagram?
The pedigree here shows the inheritance of a human disease knownas familial hypercholesterolemia. This disorder is characterized by an elevated level of serumcholesterol in the blood. Though relatively rare, this geneticabnormality can be a contributing factor to heart attacks. At themolecular level, this disease is caused by a defective gene thatencodes a protein called low-density lipoprotein receptor (LDLR).In the bloodstream, serum cholesterol is bound to a carrier proteinknown as low-density lipoprotein (LDL). LDL binds to LDLR,which enables cells to absorb cholesterol. When LDLR is defective,it becomes more difficult for the cells to absorb cholesterol. Thisexplains why the blood level of cholesterol remains high. Basedon the pedigree, what is the most likely pattern of inheritance ofthis disorder?
A rare blinding disease that has a relation to dengenerative factors is partially penetrant. In the following pedigrees for two families, the affected symptomatic individuals (black circles and squares) have been diagnosed with this disease due to the mutation in mitochondrial DNA m.14484T>C. If III.4 is homoplasmic for m.14484T>C in hair, blood, urine and other tissues examined. What will occur with IV.7 then?
Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. It has been suggested that prenatal genetic testing for achondroplasiabe made available and offered to all women. Wouldyou agree with this initiative? What ethical considerationswould you consider when evaluating the medical and societalconsequences of offering…
Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. What information would be most relevant to concluding whichof the two mutation origins, inherited or new, most likelypertains in this case? How does this conclusion impact on thiscouple’s decision to have more children?