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.
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- There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome, Angelman syndrome. Angelman syndrome results from deletion of UBE3A, which is a gene imprinted such that only the maternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of UBE3A and does not have Angelman syndrome. Individual I-2 is homozygous wild type for UBE3A. Which individuals in the pedigree are at risk for exhibiting Angelman syndrome, if any? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?) Question 8 options: Only I-1 could have been at risk. If he does not have the syndrome, no one in the pedigree could. Only III-1 is at risk I-1, II-2, and III-1 are all at risk Only II-2 is at risk No one in the pedigree is at risk Both II-2 and III-1 are at…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 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 SNP that can exist as a C or G is associated with a human disease. The genotypic odds ratio of the homozygote CC relative to the homozygote GG is 2.2, which indicates that a)both CC and GG individuals are equally likely to get the disease because 2.2 is not a significant value. b)heterozygotes are 2.2 times as likely to get the disease as GG homozygotes. c) CC homozygotes are 2.2 times as likely to get the disease as GG homozygotes. d) CC homozygotes are 2.2 times less likely to get the disease as GG homozygotes.In Figure 6-2, explain how the mutant polypeptide actsas a spoiler and what its net effect on phenotype is.Explain an example of single-nucleotide polymorphism (SNP) associated with disease.
- 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?The expression of antigen A or antigen B in red blood cells requires the help of an H antigen. A recessive mutation (h) that prevents the synthesis of the H antigen also prevents the expression of A and B antigens. This is called the Bombay effect. There is no ill effect in an individual with this mutation, but complications with blood transfusions or parental disputes may arise. a. Individuals with the Bombay genotype (hh) produce anti-H antigen. How can this be a problem during blood transfusion?A hereditary disease is inherited as an autosomal recessive trait. The wild-type allele of the disease gene produces a mature mRNA that is 1250 nucleotides (nt) long. Molecular analysis shows that the mature mRNA consists of four exons that measure 400 nt (exon 1), 320 nt (exon 2), 230 nt (exon 3), and 300 nt (exon 4). A mother and father with two healthy children and two children with the disease have northern blot analysis performed. The results of the northern blot for each family member are shown below. a) Identify the genotype of each family member, using the size of mRNAs to indicate each allele. (For example, a person who is homozygous wild type is 1250/1250). b) Based on your analysis, what is the most likely molecular abnormality causing the disease allele?
- The pairwise map distances for four linked genes are as follows: A-B = 28 m.u., B-C = 15 m.u., C-D = 25 m.u., B-D = 10 m.u., A-D = 38 m.u., A-C = 13 m.u. What is the order of these four genes? a. ACBD b. CADB c. ABDC d. ABCDWhich of the following has been directly associated with deficiencies in several genes, especially SNRNP? Leber's hereditary optic neuropathy Myotonic dystrophy Angelman syndrome Prader-Willi syndrome Fragile X syndromeThere 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…