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...

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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?
There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome and Angelman syndrome. Prader-Willi syndrome results from deletion of region 15q11-q13, which in healthy individuals is a region imprinted such that only the paternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of region 15q11-q13 and does not have Prader-Willi syndrome. Individuals I-2 and II-1 are both homozygous wild type for the region. Which individuals in the pedigree might have Prader-Willi syndrome? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?) Question 9 options: Only II-2 could have Prader-Willi syndrome III-1 could have Prader-Willi syndrome in the presented pedigree; II-2 could only have had it if she were male Both II-2 and III-1 could have Prader-Willi syndrome II-2 could have…
A family is tested for spinal muscular atrophy, an autosomal recessive disease, using RFLP. The normal gene can be digested with a specific enzyme, while the mutant cannot. According to the pedigree below, which of the following is most likely the RFLP results?
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?
Prader-Willi syndrome is caused by a mutation in anautosomal maternally imprinted gene. Label the following statements as true or false, assuming that thetrait is 100% penetrant.a. Sons of affected males have a 50% chance of showing the syndrome.b. Daughters of affected males have a 50% chance ofshowing the syndrome.
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…
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
Prader-Willi syndrome is caused by a mutation in anautosomal maternally imprinted gene. Label the following statements as true or false, assuming that thetrait is 100% penetrant.a. Sons of affected males have a 50% chance of showing the syndrome.b. Daughters of affected males have a 50% chance ofshowing the syndrome.c. Sons of affected females have a 50% chance ofshowing the syndrome.d. Daughters of affected females have a 50% chanceof showing the syndrome.
Typically, most of the nucleotide variability that occurs within a geneticlocus does not affect the phenotype. Explain why
A mutation results in an enzyme that is partially active compared to the wild -type allele. This type of "leaky" mutation is classified as ________. A) null/ amorphic B)hypomorphic C) hypermorphic D) neomorphic E) dominant negative
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?
If the 12/23 rule is violated then two similar segments can become part of the same gene.