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

Chapter4: Pedigree Analysis In Human Genetics

Section: Chapter Questions

Problem 10QP: A proband female with an unidentified disease seeks the advice of a genetic counselor before...

See similar textbooks

Similar questions

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 RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?
A 20-year-old woman comes to your genetic counselling center because she knows that Huntington disease occurs in members of her family. Huntington is an autosomal dominant disease that often becomes apparent around 35–40 years of age. Her paternal grandfather was afflicted, but so far her 41 year old father shows no symptoms. Her two great-great grandmothers on her father's side were healthy well into their 90s, and one of her great-great grandfathers died of unknown causes at 45. Testing for Huntington disease is extremely expensive, but she is concerned that she may fall victim to this disease and wants to plan her life accordingly. After examining her pedigree you advise her to: not get tested because her father is only a carrier and it is very unlikely her mother is a carrier. not get tested because there is no possibility that she is homozygous. get tested because her father could be a carrier. not get tested because only males in her family get the disease. not get tested…
An experimental assay for the blood-clotting protein called factorIX is available. A blood sample was obtained from each individual in the following pedigree. The amount of factor IX protein, shown within each symbol on the pedigree, is expressed as a percentage of the average amount observed in individuals who do not carry a mutant copy of the gene.
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
Inborn errors of immunity (IEls) are a heterogeneous group of disorders due to genetic defects in the immune response that have a broad clinical spectrum. Diagnosis of the precise genetic cause of IEI has led to improved care and treatment of patients; however, genetic diagnosis using standard approaches is only successful in -40% of patients and is particularly challenging in "sporadic" cases without a family history. Standard genetic testing for IEl evaluates for germline changes in genes encoding proteins important for the immune response. It is now clear that IEl can also arise from de novo mutations leading to genetic variants present in germ cells and/or somatic cells. What genetic mechanism has emerged as a significant and often potentially overlooked molecular mechanism of IEI? Single nucleotide variant (SNV) - A genetic change in a single nucleotide, for example the change of a guanine (G) to an alanine (A). This may or may not be associated with altered function of the…
Which of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)? It exhibits variable expressivity. The expression of this disease depends on the environment. If the individual removes phenylalanine from their diet they can avoid the disease entirely. PKU alleles are epistatic to alleles of another gene, which acts downstream in phenylalanine metabolism. These individuals supplement their diets with enzymes that break-down phenylalanine.
A genetic counsellor is working with a couple who have just had a child who has a debilitating autosomal recessive form of a disease termed epidemolysis bullosa (which causes severe external and internal skin fragility resulting in blistering etc). Neither parent has epidemolysis bullosa, nor does anyone in their families. What should the counsellor say to this couple? OA. "Because no one in either of your families has epidemolysis bullosa, you are not likely to have another baby with epidemolysis bullosa. You can safely have another child." OB. "Because you have had one child with epidemolysis bullosa, you must each carry the allele. Any child you have has a 50% chance of having the disease." OC. "Because you have had one child with epidemolysis bullosa, you must each carry the allele. Any child you have has a 25% chance of having the disease." OD. "Because you have had one child with epidemolysis bullosa, you must both carry the allele. However, since the chance of having an affected…
Sandhoff disease is due to a mutation in a gene that encodes a proteincalled hexosaminidase B. This disease has symptoms that aresimilar to those of Tay-Sachs disease. Weakness begins in the first 6 months of life. Individuals exhibit early blindness and progressive mental and motor deterioration. The family in the pedigree shown below has three members with Sandhoff disease, indicated with black symbols.
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…
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…