A genetic variant is associated with low penetrance but high expressivity. This means the variant is associated with a: High chance of showing disease symptoms but symptoms will be mild. High chance of showing disease symptoms and symptoms will be severe. Low chance of showing disease symptoms and symptoms will be mild. Low chance of showing disease symptoms but symptoms will be severe. High chance of showing disease symptoms and disease caused by a rare mutation.

A genetic variant is associated with low penetrance but high expressivity. This means the variant is associated with a: High chance of showing disease symptoms but symptoms will be mild. High chance of showing disease symptoms and symptoms will be severe. Low chance of showing disease symptoms and symptoms will be mild. Low chance of showing disease symptoms but symptoms will be severe. High chance of showing disease symptoms and disease caused by a rare mutation.

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 20QP: The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions....

See similar textbooks

Similar questions

In Figure 6-2, explain how the mutant polypeptide actsas a spoiler and what its net effect on phenotype is.
A SNP marker is found linked to the cystic fibrosis gene. Cystic fibrosis is an autosomal recessive disease. A couple plans to have children together and both are carriers for the cystic fibrosis gene but do not have the disease themselves. They are both A1/A2 at the SNP and the A2 allele is linked with the allele causing cystic fibrosis. Assuming no crossing over between the SNP and the disease gene, what genotypes in the offspring could result that would cause cystic fibrosis? O A1-cf, A1 - cf O A2-cf, A2 - cf O A1 - CF, A1 - CF O A1 - CF, A2 - cf
There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discuss
A defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system neurodegenerative disease that most often affects infants, though older children and adults can have late-onset forms of the disease. The defective gene prevents the body from making a protein called hexosaminidase A. Without, hexosaminidase A, chemicals called gangliosides build up in the nerve cells of the brain, destroying brain cells. Pedigree information regarding the incidence of Tay-Sachs within a family is depicted above. The row below that indicates the genotypes of individuals II-1, II-2, and III-1 is Select one: a. II-1 II-2 III-1 Aa Aa aa b. II-1 II-2 III-1 XAY XAXa XAXa c. II-1 II-2 III-1 XAY XAXA XaXa d. II-1 II-2 III-1 AA aa Aa
Normal wife Affected husband As a genetic counsellor you are presented with a married couple where one of them has a family history of this disease. The husband is affected by this disease and the wife is normal. The couple, who are thinking of starting a family, would like to know what their chances are of having a child born with this condition. They would also like to know what the probabilities are of having an affected boy or affected girl. Use the symbols above to complete the diagram right and determine the probabilities stated below (expressed as a proportion or percentage). Parents 4. Determine the probability of having: Gametes (a) Affected children: Possible (b) An affected girl: fertilizations (c) An affected boy: O O O O Children Affected aite if 耳

In humans, dosage compensation is accomplished by: inactivating one X chromosome in female somatic cells inactivating one homolog from each homologous pair of chromosomes in female somatic cells inactivating the Y chromosome in male somatic cells increasing gene expression from the X chromosome in male somatic cell
Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1). Is this mutation likely to cause Duchenne muscular…
Below is a pedigree showing transmission of a disease; affected individuals are indicated by solid circles or boxes. Represented below the pedigree are two nylon membranes; DNA samples from each individual in the pedigree were spotted in identical fashion on each membrane. Each individual's DNA appears directly below his or her position in the pedigree. Each membrane was hybridized with allele specific oligonucleotides that detect the two alternative alleles of a single SNP locus (ASO 1 and ASO 2). Positive hybridization is represented as a filled circle and lack of hybridization is represented as an open circle. I 11 III IV V ASO 1 ASO 2 To 1 2 3 4 5 6 a. What is the mode of transmission of this disease? 12 b. Which SNP allele (ASO1 or ASO2) is originally linked to the disease gene? c. Draw a diagram of the event that gave rise to the genotype of individual IV-5. d. Individual V-1 is an unborn fetus. If the SNP locus is 10 CM from the disease locus, what is the likelihood that he will…
A family with a history of a genetic disorder were analyzed with a dot blot using a probe for both the normal and mutant allele. Mark the types of spots you would see on this dot blot for this family. Normal Mutant OO O O Answ Answ Normal er er Answ er Answ er Answ er Answ er Answ Answ Answ Answ Answ Answ Mutant er er er er er er
DNA obtained from the indicated donor strains is used to TRANSFORM the indicated recipient strains. The resulting progeny are plated on minimal medium so that only wild-type recombinants are scored. The number of wild-types for each cross is given in the chart below. donor donor arg+ val- ser- val+ ser- arg- val- ser+ val- ser+ arg+ val- ser- O valine recipient recipient none of these. O arginine arg- val+ ser+ arg+ val- ser+ Which locus is closest to serine? arg+ val+ ser- wild-types wild-types 70 98 0 2 arg- arg-
The figure below represents a two-generation pedigree representing the inheritance of hereditary deafness (HD), which, has been shown to be autosomal recessive. Below the pedigree (and aligned with each person in each generation) are Southern blot gels for two RFLP loci. The BamH1 RFLP locus has alleles of either 7 kb or 5 kb and the EcoRI RFLP locus gives either a 4 kb or 3 kb EcoRI fragment. a. Determine if HD is linked to either of these markers. b. If linkage is detected between HD and one of the RFLPs, are there any recombinant offspring that you can detect? c. If linkage is detected between HD and one of the RFLPs, what is the approximate map distance between the two? Do you think that this distance will efficiently and effectively allow the RFLP to track the HD gene?
A genetic disorder is caused by a LOF mutation (Bm) and epigenetic imprinting of gene B. Through pedigree analysis of many families, researchers have observed the following results: Female carrier B+Bm x B+B+ --> B+Bm and Mother's genotype Father's genotype Children's genotype Children's phenotype Cross 1: B+Bm B+B+ B+Bm , B+B+ some affected, some unaffected Cross 2: B+B+ B+Bm B+Bm , B+B+ always unaffected Based on these results, gene B is imprinted on the: a. maternal b. paternal