Emery-Dreifuss muscular dystrophy is a condition that primarily aftects muscle and the cardiac muscle. Mutations in the LMNA gene are responsible for the disease. Heterozygotes who carry pathogenic variants in LMNA may express the associated trait; however, others do not. Given this information, this disease exhibits autosomal recessive inheritance X-linked inheritance codominance autosomal dominant inheritance incomplete domiance Oincomplete penetrance pleiotropy

Emery-Dreifuss muscular dystrophy is a condition that primarily aftects muscle and the cardiac muscle. Mutations in the LMNA gene are responsible for the disease. Heterozygotes who carry pathogenic variants in LMNA may express the associated trait; however, others do not. Given this information, this disease exhibits autosomal recessive inheritance X-linked inheritance codominance autosomal dominant inheritance incomplete domiance Oincomplete penetrance pleiotropy

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

See similar textbooks

Similar questions

A 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…
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 recessive gene. If 2 normal parents had a daughter with the symptoms ofthis disease, and a normal son, what is the probability that he might be acarrier of the recessive gene?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.
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.
. An allotetraploid species has a genome composed oftwo ancestral genomes, A and B, each of which havea basic chromosome number (x) of seven. In thisspecies, the two copies of each chromosome of eachancestral genome pair only with each other duringmeiosis. Resistance to a pathogen that attacks the foliage of the plant is controlled by a dominant allele atthe F locus. The recessive alleles Faand Fbconfersensitivity to the pathogen, but the dominant resistancealleles present in the two genomes have slightly different effects. Plants with at least one FAallele areresistant to races 1 and 2 of the pathogen regardlessof the genotype in the B genome, and plants with atleast one FBallele are resistant to races 1 and 3 of thepathogen regardless of the genotype in the A genome.What proportion of the self-progeny of an FA Fa FB Fbplant will be resistant to all three races of the pathogen?
The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product, embryogenesis isnot completed. Consider a cross between a female heterozygousfor the bicoid mutation (bcd+/ bcd-) and a homozygousmale(bcd-/ bcd-). How is it possible for a male homozygous for the mutationto exist?
Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey showed that people heterozygousfor mutations at the BLM locus are at increased risk of colon cancer.Suppose you are a genetic counselor. A young woman is referred to youwhose mother has Bloom syndrome; the young woman’s father has nofamily history of Bloom syndrome. The young woman asks whether sheis likely to experience any other health problems associated with herfamily history of Bloom syndrome. What advice would you give her?
Huntington disease is a rare dominant condition in humans that results in a slow but inexorable deteriorationof the nervous system. The disease shows what mightbe called age-dependent penetrance, which is to saythat the probability that a person with the Huntingtongenotype will express the phenotype varies with age.Assume that 50% of those inheriting the HD allele willexpress the symptoms by age 40. Susan is a 35-yearold woman whose father has Huntington disease. Shecurrently shows no symptoms. What is the probabilitythat Susan will show symptoms in five years?
Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
Familial 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?
Thomas discovered a devastating piece of family historywhen he learned that his brother had been diagnosed withHuntington disease (HD) at age 49. This dominantly inheritedautosomal condition usually begins around age 45 with progressivedementia, muscular rigidity, and seizures and ultimatelyleads to death when affected individuals are in their early 60s. Therecurrently is no effective treatment or cure for this genetic disorder.Thomas, now 38, wonders what the chances are that he also hasinherited the mutant allele for HD, leading him to discuss with hiswife whether they should seek genetic counseling and whether heshould undergo genetic testing. They have two teenage children, aboy and a girl. Question : If you were in Thomas’s position, would you want to be testedand possibly learn that you were almost certain to develop thedisorder sometime in the next 5–10 years?
In 1995, doctors reported a Chinese family in whichretinitis pigmentosa (progressive degeneration of theretina leading to blindness) affected only males. Allsix sons of affected males were affected, but all of thefive daughters of affected males (and all of thechildren of these daughters) were unaffected.a. What is the likelihood that this form of retinitispigmentosa is due to an autosomal mutationshowing complete dominance?b. What other possibilities could explain the inheritance of retinitis pigmentosa in this family? Whichof these possibilities do you think is most likely?