Concept explainers
At an interview with a genetic counselor, a couple with a severely asthmatic child learned that asthma is a complex disorder involving many genetic loci. The counselor explained that a method called whole genome sequencing (WGS) is now widely used in diagnosing and treating traits controlled by multiple loci and, in this case, could provide information to devise an effective therapy for their child. However, the parents were warned that because their child’s entire genome was to be sequenced, information unrelated to asthma, but with potentially serious health consequences, might be discovered. After permission was granted, genome analysis created a panel of loci for therapy design. The analysis also revealed that the child carried two copies of an allele conferring an increased risk for Alzheimer disease. One copy of this allele increases the risk 4-fold; two copies raise the risk to 12-fold. Even though the child and both parents are at risk, current guidelines do not require that this finding be disclosed because it is unrelated to the primary reason for undertaking WGS. Knowing that disclosure was not legally required, but feeling she may have an ethical responsibility to divulge this information, the counselor was conflicted regarding how to proceed.
Would the fact that there is currently no treatment for Alzheimer disease influence your decision about disclosure?
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EBK CONCEPTS OF GENETICS
- As a genetic counselor, you are asked to assess the risk for a couple with a family history of familial adenomatous polyposis (FAP) who are thinking about having children. Neither the husband nor the wife has colorectal cancer, but the husband has a sister with FAP. What is the probability that this couple will have a child with FAP? Are there any tests that you could recommend to help in this assessment?arrow_forwardFollowing the tragic shooting of 20 children at a school in Newtown, Connecticut, in 2012, Connecticut’s state medical examiner requested a full genetic analysis of the killer’s genome. What do you think investigators might be looking for? What might they expect to find? Might this analysis lead to oversimplified analysis of the cause of the tragedy?arrow_forwardPedigree Analysis Is a Basic Method in Human Genetic: What does OMIM stand for? What kinds of information are in this database?arrow_forward
- A research team interested in mapping human genes discovered a new restriction length polymorphism (RFLP). The nature of the polymorphism is shown in the figure below. a) They test the RFLP in a family with the pedigree below. The individuals colored blue are affected by hemophilia, a blood-clotting disease. On what chromosome is the RFLP found?arrow_forwarda) Bioinformatics is an interdisciplinary field that integrates computer science with mathematics and statistics to solve biological questions. Many bioinformatics tools for gene prediction, homology modelling and such are available free online. (i) How can online tools such as BLAST and FASTA assist in our genomics research? Is the sequence below in FASTA format? Justify your answer. >gi 129295|sp|P01013 | OVAX_CHICK GENE X PROTEIN (OVALBUMIN-RELATED) QIKDLLVSSSTDLDTTLVLVNAIYFKGMWKTAFNAEDTREMPFHVTKQESKPVQMMCMNNSFNVATLPAE KMKILELPFASGDLSMLVLLPDEVSDLERIEKTINFEKLTEWTNPNTMEKRRVKVYLPQMKIEEKYNLTS VLMALGMTDLFIPSANLTGISSAESLKISQAVHGAFMELSEDGIEMAGSTGVIEDIKHSPESEQFRADHP (ii) FLFLIKHNPTNTIVYFGRYWSParrow_forwardISSR is generally a dominant STS DNA marker. Nonetheless, with validated experimental evidence (e.g. laboratory and population genetics data), the marker can be used in codominance marker genotyping. Briefly explain each case below: a) Codominant marker targets specific locus and reveals allelic variations in that locus among DNA samples. b) Dominant marker: primers can complement other repeat sequences or in multiple loci thereby non-specificity in sampled genomes.arrow_forward
- this is what i have said about this image so far, what else can be said aswell including the raw count column. " Interpreting the results of an RNA-Seq analysis is pivotal in understanding the underlying genetic mechanisms of diseases such as breast cancer. In this analysis, Figure 1 provides comprehensive data on differentially expressed genes associated with breast cancer. By delving into the provided information, we can gain valuable insights into the molecular landscape of this disease. First focus is on the gene with the highest fold change, EYA4, situated on chromosome 6. With a staggering fold change of 3604.4176, EYA4 exhibits an unprecedented level of overexpression in cancerous cells compared to normal cells. This profound alteration suggests a pivotal role for EYA4 in breast cancer pathogenesis. The log2 fold change of 11.81555 further emphasizes the magnitude of this difference in gene expression. Statistical significance is evident, with an exceptionally low p-value of…arrow_forwardA small-scale pedigree study involving 15 families with a total of 50 children was performed to determine whether a SNP in a candidate gene is linked to a disease. The result showed that among 22 children who developed the disease, 19 belonged to non-recombinants while 3 recombinants. For the remaining 28 children, 21 were non-recombinants and 7 belonged to recombinants. A Lod (Z) score can be calculated and used to determine whether this SNP is linked to the disease. By using a very stringent threshold, which of the following conclusions is correct? O A.Z is approximately 4.03, indicating a linkage O B. Z=0.25, indicating no linkage OCZ=0.2, indicating no linkage O D.Z is approximately 4.19, indicating a linkagearrow_forward24. 23andme is a direct to consumer genotyping company that uses a microarray to genotype people on 1 million known SNPS in the genome. A man who was adopted wants to know about his ancestry, and purchases a 23andme kit for himself. He finds that of each autosome pair, exactly one is classified as 100% Sub-Saharan African, while the other is a mixture of various East Asian and European components. He also finds that his X chromosome is 100% Sub-Saharan African. What can this man confidently infer about his recent ancestry? a. His mother was of Sub-Saharan African descent b. His father was of Sub-Saharan African descent c. He has no Neanderthal ancestry d. He has no mutations relative to his parents e. 23andme mixed up two samples and he can't infer anythingarrow_forward
- In a clinical context, doctors are evaluating a therapy for a new patient (say patient B) that they have reasons to believe might develop a cancer similar to another patient they treated successfully (patient A). They know that the severity of the cancer is mainly associated with mutations in a specific gene (BRCAI). Suggest a technique that can be used to rapidly assess the similarity between the genetic panerns of patients A and B, without the need to sequence the entire gene, and briefly describe it. A team of scientists are interested in the amplification of a specific DNA fragment in a large plasmid of about 10000 bps. (0) (11) The sequence the scientists are interested in is 5'-CATTGATTATTG[...JATCAATTACGGG-3" 3-GTAACTAATAAG[...]TAGTTAATGCCC-5* Where [...] indicates a longer 100bps sequence. Provide two possible primers that the scientists should use to address their need, if they want to be sure they specifically address this region in the entire plasmid. Briefly explain the…arrow_forwardThe majority of GWAS associated variants exist in non-coding regions. This has led to additional challenges in understanding the biological mechanisms behind the trait, as the associated variants may not have a clear impact on gene function. Explain two non-coding mechanisms and how they contribute to genetic variation. In your answer, mention what types of sequencing data would assist in determining whether a non-coding GWAS locus may operate under these mechanisms.arrow_forwardDescribe the main technique for amplifying a segment of DNA (like the one you suspect is involved in Lee’s cancer) from a complex mixture of genomic DNA. Remember that the entire human genome sequence is known. (Hint: This is a technique that is commonly used by laboratories that do genetic testing and various other applications of molecular biology.)arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning