Concept explainers
To explain: The benefits of new information on the extent of genetic polymorphism among humans, particularly with respect to single-
Introduction: Variation that takes place in a single nucleotide in the genome can be termed as single-nucleotide polymorphism. The change in a single nucleotide can result in the development of diseases like sickle cell anaemia, cystic fibrosis, and so on. Copy number variation is the repetition of part of a genome.
To explain: The challenges of new information on the extent of genetic polymorphism among humans, particularly with respect to single-nucleotide polymorphism and copy number variation.
Introduction: Variation that takes place in a single nucleotide in the genome can be termed as single-nucleotide polymorphism. The change in a single nucleotide can result in the development of diseases like sickle cell anaemia, cystic fibrosis, and so on. Copy number variation is the repetition of part of a genome.
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Biology (MindTap Course List)
- Increasingly, whole-genome sequencing of individuals is being done to help identify and treat medical conditions. Genome sequencing invariably identifies a number of variations, some common and some rare, that might be clinically relevant. For example, suppose a person had their genome sequenced to help determine their risk for cardiovascular disease and, just by chance, the sequence revealed that they carry one or more variants that predispose them to cancer or Alzheimer disease. Does the sequencing laboratory or physician have an obligation to report this finding, which was not the purpose of the sequencing and which the patient did not request? What about reporting variants for which no or limited information can be provided about their clinical significance? Does the answer to this question differ for sequencing done on children?arrow_forwardDNA profiling has been used to verify pedigrees of valuable animals such as show dogs, racing greyhounds, and thoroughbred horses. However, the technology is much harder to apply in these cases than it is in forensic applications for humans. In particular, many more DNA markers must be examined in domesticated animals to stablish the identity or close familial relationship of two DNA samples. Why would you need to look at more polymorphic loci in these animals than you would in humans?arrow_forwardHumans and chimpanzees share about 98% of their DNA. What is DNA? What might be the role of regulatory genes in producing the anatomical differences between these two lineages? Give two examples of how the field of genetics has revolutionized biological science. What is polymerase chain reaction (PCR) and why is it important in genetics?arrow_forward
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- a) 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_forwardHow does molecular biology paved way for the development of the DNA fingerprinting technique? and what is its molecular basis?arrow_forward#22.hereTopic: Recombinant pharmaceuticals (for the production of insulin, human growth hormone or blood clotting factors) Question Describe the molecular genetics process using proper scientific terminology. Describe the steps that are involved. How is it performed?.arrow_forward
- Q1: If all genes are composed of just four nucleotides, how can different genes carry different types of information? Q2: Would you expect to see more variation in the sequence of DNA bases between two members of the same species (such as humans) or between two individuals of different species (for example, humans and chickens)? Explain your reasoning. Q3: Do different alleles of a gene have the same DNA sequence or different DNA sequences?arrow_forwardForward Genetics Analysis uses a variety of beneficial approaches to identify never before described genes. For each of the following approaches or outcomes, briefly (maximum 2 sentences) discuss in your own words, their purpose in Forward Genetics Analysis. c) Mendelian ratios d) Genetic screenarrow_forwardA paper hypothesizes that white flowers are unable to produce anthocyanins (purple pigments) because they lack a functional “A” protein. However, it is also possible that an unknown gene is responsible for the lack of anthocyanins. Now that they have isolated DNA sequences of the “A” allele, design an experiment to use these DNA sequences to distinguish between these two hypotheses.arrow_forward
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