Q: What is PID? What causes it?
A: It consists of primary sex organs called gonads which produce gametes and hormones, secondary sex…
Q: List the diagnostic features (genetic or cytological) that are used to identify these chromosomal…
A: In the nucleus of a cell – DNA is present in the form of chromosomes. These are compact structures…
Q: describe what is CNVCopy number variant?
A: The human genome consists of 6 billion chemical bases or nucleotides of DNA packed into two sets of…
Q: What is the sequence of the first 10 nucleotides of the transcript of this gene? 5' 3'
A: Transcription is mainly the process of making RNA from gene sequence and transcript is the product…
Q: In 1-3 sentences define Sense, Missense, Nonsense mutations, Frameshift mutations, Allelic…
A: The cell is the basic structural and functional unit of life. It carries out various functions in…
Q: What is meant by Genetic Information NondiscriminationAct (GINA) ?
A: Genetics can be defined as the branch of biology which is concerned with the study of genes, genetic…
Q: Explain how it is possible for a person with a translocationor an inversion to be phenotypically…
A: Chromosomes are the condensed packaged structure of the genetic material of an organism. The…
Q: Name the type of translocations and explain their mechanism of occurrence.
A: Translocations were discovered for the first time in the late nineteenth and early twentieth century…
Q: Typically, most of the nucleotide variability that occurs within a geneticlocus does not affect the…
A: The total number of genetic traits present in the genetic composition of a species is known as…
Q: How are the repeated sequences generated?
A: Introduction Repeated sequences are patterns of nucleic acids (DNA/RNA) that occur at multiple sites…
Q: What is expressed sequence tag (EST)?
A: The sequencing of the genome from different organisms has been performed for many years due to many…
Q: What are holandric genes?
A: Holandric genes are genes that are found on the Y chromosome that are not homologous to any other…
Q: Explain Deletion-insertion polymorphisms (DIPs)?
A: DIPs or Deletion-Insertion polymorphisms is defined as a large number of consistent genetic variants…
Q: • What is the causative gene mutation in these diseases? • What amino acid and/or protein domain is…
A: this is a multipart question and according to our guidelines we are allowed to answer only 3 parts…
Q: What is the underlying genetic defect that causes xeroderma pigmentosum?How can the symptoms of this…
A: Xeroderma pigmentosum condition is a result of specific mutations in the DNA and it is the autosomal…
Q: What is A hypermorphic mutation?
A: The mutations are classified based on their behavior in terms of genetic interactions. The Nobel…
Q: Define deletion-insertion polymorphisms (DIPs)
A: Insertion is a mutation in which one or more nucleotide base pairs are added into a DNA sequence.…
Q: How were the specific sequences of triplet codes determined experimentally?
A: The DNA genetic code comprises a set of rules and instructions to obtain proteins and molecules…
Q: What are the possible genotypes of the PTC locus?
A: * genotype means collection of genes that refers to two alleles of a particular gene and genotype…
Q: the deletion of which chromosome causes obvious morphological and mental defects in the organism,…
A: Cri-du-chat syndrome, otherwise called 5p-(5p minus) syndrome or cat cry syndrome, is a chromosomal…
Q: Discuss mobility in the human genome
A: Genes are the basic structural and functional unit of heredity. They carry coded genetic information…
Q: Explain Mutagenesis screens for maternal effect and zygotic lethal mutations?
A: The screen that is used in laboratory procedure to create or detect a mutant organism is called…
Q: The transposase enzyme is essential for transposition because
A: Answer: Transposase is an enzyme which required for the transposition of elements of DNA.
Q: What is the chromosome abnormality in cri du chat syndrome?
A: Cri-du-chat syndrome, commonly known as 5p- (5p minus) syndrome. Infants with this syndrome…
Q: Provide one example of a clinical implication of a “silent mutation” that has proven to have an…
A: Natural selection is an evolutionary mechanism and organisms that are more environmentally suited…
Q: Explain the following term: Gene:
A: Genes are found on chromosomes, which are small spaghetti-like structures.
Q: determine the approximate number of amino acids that would be missing in the telomerase protein of a…
A: Telomeres are the repeating nucleotide sequences found at the ends of chromosomes. Telomeres…
Q: Explain the information gained about the function of WDR62 from the DNA sequence of the normal human…
A: A neurological condition known as microcephaly is brought on by a mutation, or altered DNA sequence.…
Q: Define common variants
A: A common variant is a part of a hypothesis "Common diseases-common variant" that accounts for the…
Q: describe Deletion-insertion polymorphisms (DIPs)
A: Polymorphism: Many forms of a allele is termed as polymorphism. The polymorphism leads to the…
Q: Compare and contrast the molecular and phenotypic features of Prader-Willi and Angelman syndromes.
A: Prader villi and angle man syndrome are imprinting disorders. Both are related to abnormalities in…
Q: What are similarities between Jacob Syndrome and Patau Syndrome?
A: Jacob Syndrome is a chromosomal aberration caused by the non-disjunction of the Y chromosome. They…
Q: Describe the exact DNA mutation that has occured, to create the mutant dystrophin allele.
A: Complex of dystrophin and glycoprotein (DGC). Dystrophin is a rod-shaped protein that binds the…
Q: Comparing the colchicine-treated cell and the untreated cell, what general type of chromosomal…
A: Colchicine is a microtubule destabilizing drug and is used for the treatment of rheumatoid…
Q: Describe a tautomeric shift and how it may lead to a mutation.
A: A mutation is a permanent change in the DNA of a cell such that the sequence deviates from what is…
Q: What genotype would a long haired guinea pig have?
A: A genotype is set of heritable genes which can be passed from parents to offsprings.Genotype is the…
Q: in a paragraph discuss some examples of the effects of chromosomal mutations in humans in your own…
A: The majority of mutations develop when the DNA fails to duplicate correctly. All of these mutations…
Q: Define copy number variants (CNVs)
A: The chromosomal alteration could be the structural or numerical abnormalities that exist in an…
Q: Define the function of reverse transcriptase.
A: The production of RNA from a DNA template strand is known as transcription. Because it forms RNA…
Q: Explain the Mutations at the Huntington disease locus are caused by an expansion of a trinucleotide…
A: Huntington’s disease is a brain disorder that is inherited in an autosomal dominant pattern. It is…
Q: Compare and contrast the molecular mechanisms leading to FX syndrome and to FSHMD.
A: Introduction :- A gene originally known as FMR1 gene by scientists and responsible for FXS is…
Q: Distinguish between germ-line and somatic mutations.
A:
Q: What are the similarities a chromosomal mutation and point mutation?
A: Chromosomal mutation is a numerical or structural change in a chromosome. It causes Klinefelter…
Q: Explain two ways that a chromosomal rearrangement can cause a position effect.
A: Genes are the units of heredity that are transmitted through generations. Genes contain the genetic…
Illustrate and give the normal sequence and the mutated sequence in Leigh's syndrome
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Solved in 2 steps
- describe Deletion-insertion polymorphisms (DIPs)What is the Philadelphia chromosome? Briefly describe how it causes chronic myeloid leukemia.Discuss the following types of mutations, with reference to specific genetic disorders: i) Chromosomal deletion; ii) Reciprocal translocation; and iii) Haploinsufficiency
- Explain the Mutations at the Huntington disease locus are caused by an expansion of a trinucleotide repeat SSR in a coding region.Briefly discuss why mutant allele 1 fails to produce functional protein. Note that this mutation has no impact on the length of the mRNA transcribed from the gene.To detect the CAG repeat expansion with a particular gene where 30 repeats in Normal changes to 250 repeats in a certain disease, how can we diagnose the condition. How To identify Y chromosome microdeletion ( which involves the deletion of AZF locus) using conventional karyotyping? If not then why. How will you diagnose a chromosomal translocation event?
- Explain the reason why the genes when transplaced could not perform their normal function in a new location.Answer completely and correctly: Describe what happens when a nonsense mutation is introduced into the gene encoding transposase within a transposon.Discuss the consequences of a germ-line versus a somatic mutation.
- Indicate whether the following sentences is either True or False and CORRECT the wrong sentences ( please answer the two questions 1 and 2) : 1. People having defective APC gene are more susceptible to developing polyps (benign tumors) in the colon, and such APC mutations can arise spontaneously or be triggered by environmental mutagens. 2. Monomeric α-catenin binds strongly to E-cadherin-β-catenin; and the dimer binds to intergrins .define the term name as Missense mutationsWhat is the underlying genetic defect that causes xeroderma pigmentosum?How can the symptoms of this disease be explained by the genetic defect?