How are genetic variants identified?

Q: What are the chances of occurrence of hypermorphic mutation?

A: Mutations are defined as the permanent change in the DNA’s base sequence. The mutation that…

Q: What is PID? What causes it?

A: It consists of primary sex organs called gonads which produce gametes and hormones, secondary sex…

Q: where is chromosome 18 located?

A: Chromosomes are a compact form of DNA wrapped around some proteins and are generally present in a…

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 are genetic markers? Why are they important?

A: Genetic markers are a gene with the known location on the chromosomes. Example: Minisatellite and…

Q: What are the effects of duplication mutation?

A: Mutations are the alterations or the changes that occur in the DNA. Mutagens are the agents that are…

Q: What are the chances of occurrence of neomorphic mutation?

A: Neomorphic mutations are rare dominant gain-of-function mutations that produce a novel phenotype.

Q: What is the karyotypefound in Down syndrome?

A: During the most recent years, Down disorder has been the focal point of uncommon consideration. Down…

Q: What is chromosome 19 disorder?

A: Chromosome number 19 consists of about 1500 genes which are responsible for providing instructions…

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: What is a Pericentric inversion?

A: The chromosomes are the thread like structure that contains hereditary information in the form of…

Q: What is the difference between a lesion and an ablation?

A: Cells are the structural and fundamental units of life. Cells that possess similarity in structure…

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: How common is dup15q?

A: Dup15q:- Is characterized by having an extra copy of a portion  of chromosome 15[partial trisomy] in…

Q: What are chromosome 17 traits?

A: In all the living organisms, the genetic material is organized into a specific structure known as a…

Q: Explain the Syndromes from AbnormalChromosome Numbers ?

A: Chromosomes are thread-like structures present inside the nucleus of the cell. They are made up of…

Q: How to identify all the somatic mutationswithin tumors ?

A: A somatic mutation is a modification within the desoxyribonucleic acid sequence of a somatic cell of…

Q: What type of genetic disorder has occurred if there is missing  chromosome five?

A: Chromosomes are long thread-like structures that carry coded genetic information in the form 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: What is 18th chromosome abnormality?

A: The chromosomes are the thread like structure that contains hereditary information in the form of…

Q: What is chromosome 15 abnormality?

A: Chromosomes are long thread-like structures that carry coded genetic information in the form of DNA.…

Q: What is preimplantation genetic diagnosis?

A: Prenatal diagnosis is performed for the identification of genetic diseases and their predisposition…

Q: What is anomic aphasia?

A: The anomia is generally a language disorder - inability to express or communicate. It will slowly…

Q: What occurs during duplication chromosomal mutation?

A: Mutations are defined as sudden heritable change which alters the expression of a gene.

Q: What is the chromosome abnormality in fragile X syndrome?

A: Moderate mental retardation in affected individuals and mild cognitive impairment in affected…

Q: Explain the Postreplication Repair ?

A: Deoxyribonucleic acid (DNA) stands for deoxyribonucleic acid. It is a biomolecule found in the…

Q: What is 15q?

A: Chromosomes are the DNA molecules with a portion or all of the genetic material of the organisms.…

Q: What is a CC genotype?

A: in genetics we have 3 types of genotypes; homozygous dominant, heterozygous and homozygous…

Q: where is chromosome 23 located?

A: Genetics is a branch of biology that deals with genes, heredity, and variation. Heredity purely…

Q: Is chromosome 22 hereditary?

A: Heredity can be defined as the transfer of character in the offsprings from their parents through…

Q: How Mutations at the Huntington disease locusare caused?

A: Huntington disease is an inherited rare disease that progressively degenerates the nerve cells…

Q: is AC genotype normal?

A: Genotype refers to the genetic constituation of an organism. The genotype in humans are AA, AS, AC,…

Q: How is the early diagnosis of genetic diseases usually done?

A: Introduction The diagnosis of genetic diseases can be made during the prenatal period, either…

Q: What is the significance of the Philadelphia chromosome, and how is it related to leukemia?

A: Chromosomes are the structures present in the nucleus that appear thread like and contain genes.…

Q: What causes DNA diffrences ?

A:

Q: What is a A germline mutation?

A: A germinal mutation or germline mutation as the word indicates itself it is a mutation in germline…

Q: Explain the Categories of Genetic Variants?

A: Genetics is the study of how traits are passed from one generation to another. This includes but is…

Q: Why Postreplication repair occurs ?

A: The replication of DNA occurs during the cell cycle. The daughter cell which formed during the cell…

Q: What are examples of genetic diseases?

A:

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: What are paraneoplastic syndromes?

A: Paraneoplastic syndromes are rare conditions that can occur when cancer cells produce substances…

Q: Define deletion?

A: Chromosomes are thread-like structures situated inside the nucleus of plant and animal cells. Each…

Q: When Replacement of the original gene occurs ?

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

Q: What are Novel Phenotypes ?

A: Introduction: The most advancing branch of science is genetics. The study of genetics comprises…

Q: What is karyotype?

A: The deoxyribonucleic acid (DNA) in an organism is stored in a condensed form known as a chromosome.…

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.