A researcher sequences the whole exome of a patientsuffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading causefor simultaneous deafness and blindness. The exomesequence does not show homozygosity for any polymorphisms different from the human RefSeq.a. How could the researcher examine the data alreadygathered to try to find the disease gene, assumingthe sequence is accurate?b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencingthe patient’s whole genome. What are the potentialpitfalls of this strategy?

Q: Approximately 50 million SNPs have thus far beenrecorded after the characterization of thousands…

A: The human genome consists of about 3 million base pairs and 23 pairs of chromosomes. Out of these,…

Q: How has the concept of a reference genome evolved toencompass a broader understanding of genomic…

A: Answer- Genome is the total set of genes present in the haploid content of the DNA of an organism.…

Q: In a study of a muscle disorder, several affected families exhibitedvision problems, muscle…

A: Genes in nuclear content express most of the characters, while some of the characters are associated…

Q: A human gene, which we will call gene X, is located on chromosome11 and is found as a normal allele…

A: A. Positional cloning is a strategy used to clone a gene based on its mapped position along a…

Q: A species of antelope has 20 chromosomes per set. The species isdivided by a mountain range into two…

A: Natural selection is a progressive evolutionary process which is brought about by the alteration in…

Q: Achondroplasia is a rare form of dwarfism. It is caused by anautosomal dominant mutation within a…

A: Achondroplasia is a disease caused by an autosomal dominant mutation in the FGFR3 gene, which codes…

Q: Traditional gene mapping has been applied successfully to a variety of organisms including yeast,…

A: Genetic mapping is a method to identify exactly which chromosome has which gene and exactly showing…

Q: High-throughput sequencing reveals 30 new mutations have occurred in the coding regions of genes in…

A: Answer:- Option E is correct

Q: A particular disease is found in a group of South AmericanIndians. During the 1920s, many of these…

A: Any abnormal condition which affects the functions or structure of either the whole body or some…

Q: Consider two maize plants:a. Genotype C/c m ; Ac/Ac+, where cm is an unstable allele caused by a Ds…

A: Ac and C are unlinked, that the chromosome-breakage frequencyis negligible, and that mutant c /C is…

Q: Besides the reasons listed in this feature,what other reasons would make the peaplant a better…

A: reasons would make the pea plant a better object for genetic study than humans are :

Q: Researchers have identified a gene in humans that (when mutant)causes severe dwarfism and mental…

A: Firstly, let's assume that we have isolated the normal gene from a healthy human, say gene X…

Q: A DNA variant has been found linked to a rare autosomal dominant disease in humans and can thus…

A: A variant of DNA (deoxyribose nucleic acid) is linked to a rare type of dominant, autosomal disease…

Q: A research paper published in the summer of 2012presented a method to obtain the whole-genome…

A: Amniocentesis is the medical procedure used in prenatal diagnosis of chromosomal abnormalities and…

Q: Two diploid species of closely related frogs, which we will callspecies A and species B, were…

A: Evolution is defined as inheritable changes over multiple generations of a population of organisms.…

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A: To explain: To explain about careers of cystic fibrosis and the risks of having cystic fibrosis…

Q: In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the…

A: Retinoblastoma is a rare retinal disease that develops a malignant tumor in the retinal layers of…

Q: Scientists are interested in cloning an extinct animal called the gastricbrooding frog. This strange…

A: The scientists should implement "somatic cell nuclear transfer" technique to clone this species i.e.…

Q: . An allotetraploid species has a genome composed oftwo ancestral genomes, A and B, each of which…

A: An allotetraploid is a condition in which a hybrid contains chromosomes 4 times that of a haploid…

Q: . a. If you found a zinc-finger domain (which facilitates DNA binding) in a newly identified…

A: A gene is the physical and functional unit of heredity. They pass information from one generation to…

Q: For three years, Gunther Schlager and Margaret Dickie estimated theforward and reverse mutation…

A: If a mutation converts a functional gene into a non-functional gene, it is known as forward…

Q: Give two different reasons for the much higher ratioof total DNA to protein-encoding DNA in the…

A: The genome consists of all the genes present in an organism. These genes are inherited from both the…

Q: . The position of the gene for the protein actin in the haploid fungus Neurospora is known from the…

A: DNA is the genetic material in most living organisms. It is the information hub of the cell that…

Q: Which of the following experimental observations suggest that adisease has a genetic basis?A. The…

A: Gene is a functional unit of heredity. A gene is a sequence of nucleotides in genome that codes for…

Q: DNA (haplotypes) originating from the Denisovans can be found in the genomes of Indigenous…

A: Genetic relationships between human groups were compared of relative allele frequency at different…

Q: What kind of molecular event was likely to have generated thus polymorphism?

A: DNA is deoxyribonucleic acid which is the genetic material responsible for transferring genetic…

Q: . Suppose that you wanted to make a genomic library to determine the complete sequence of anewly…

A: Construction of a genomic library is made possible by gene cloning which is a part of DNA…

Q: what method would allow you to specifically label the DNA fragments from the HOAP gene only?

A: HOAP GENE: HOAP gene or the HP1/ ORC associated gene is responsible for the efficient capping of…

Q: In an electrophoretic gel across which is applied a powerful electrical alternating pulsed field,…

A: Introduction Gel electrophoresis is a technique that uses size and charge to separate and analyse…

Q: Choose the phrase from the right column that best fitsthe term in the left column.a. DNA…

A: In genetics, some of the terms are of very important and some of the terms are below. The phrases on…

Q: Consider two maize plants:a. Genotype C/cm ; Ac/Ac+, where cm is an unstableallele caused by a Ds…

A: A gene is the essential physical and functional unit of heredity. They are comprised of DNA…

Q: You have identified a SNP marker that in one largefamily shows no recombination with the locus…

A: An SNP (Single nucleotide polymorphism) marker has been identified that shows no recombination…

Q: In Neurospora, the mutant stp exhibits erratic stop-andstart growth. The mutant site is known to be…

A: mtDNA stands for mitochondrial DNA. If an stp strain is used as the female parent in a cross  with a…

Q: You are using nitrosoguanidine to “revert” mutant nic-2(nicotinamide-requiring) alleles in…

A: Neurospora can be defined as a genus of ascomycetes fungi. The genus name, which means "nerve…

Q: Imagine that you have been given several bacterial strainsfrom various countries around the world…

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Q: In an in situ hybridization experiment, a certain clonebound to only the X chromosome in a boy with…

A: In situ hybridization is a sort of hybridization in which a labelled complementary DNA, RNA, or…

Q: In the early 1970s, Igor Dawid and Antonie Blacklerconducted classical experiments that first showed…

A: The phenotype of an organism is controlled by its genes that are inherited from both the parents.…

Q: Why PCR Products Are Genotypedby Sequencing or SizingFor Mendelian genetic diseases cau?

A: Karry Mullis invented this ingenious method in 1989, who was awarded Nobel prize in 1993. Polymerase…

Q: what does thi statement means Disease-Causing MutationsAre Hidden in a Sea of Variation?

A: The exome is the portion of the genome composed of exons. Exons are sequences within the mature mRNA…

Q: What is the basis for the lowfrequency of errors in DNA replicationobserved in all cells? Is this…

A: The genetic material that gives each cell its identity is DNA. Before a cell replicates and divides…

Q: Following the tragic shooting of 20 children at a school in Newtown, Connecticut, in 2012,…

A: DNA (deoxyribonucleic acid) is the structural unit of a gene. The nucleotide sequence of a gene…

Q: . If you were a genetic counselor and had a patient withMERRF who wanted to have a child, what kind…

A: MERRF stands for Myoclonic Epilepsy with Ragged Red Fibers. It is a genetic disorder caused by…

Q: As a molecular biologist and horticulturist specializing in snapdragons, you have decided that you…

A: Genomic libraries contain an entire genome of a species as a collection of random DNA fragments. The…

Q: When mice carrying the Avy allele exhibit a darker coat, thisphenotype is thought to be caused by…

A: When mice carry Avy allele, it exhibits the darker coat. This phenotype is thought to be caused by…

Q: Cystic fibrosis can arise from a rare, short, in-frame deletion within the CFTR gene, which creates…

A: Cystic fibrosis (CF) is a disease that inherits and affects the lungs, digestive system, and other…

Q: thern blot results in humans are shown in the following ares represent individuals expressing a…

A: Pedigree analysis is the study of inheritance of genetic traits several generations of human family…

Q: The use of nucleotide sequence data to measure genetic variabilityis complicated by the fact that…

A: Deoxyribonucleic acid(DNA) is a molecule comprised of two polynucleotide chains coiled around each…

Q: As a molecular biologist and horticulturist specializing in snapdragons, you have decided that you…

A: Given: A molecular biologist and horticulturist specializing in snapdragons. Need to find how many…

Q: a) what feature of the genome is likely to be located between the two LD blocks that allows…

A: LD blocks are linkage disequilibrium blocks present in a chromosome. It is defined as an event in…

Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.