What causes the genetic disorder Down syndrome?

Q: What is genomic reduction?

A: The genome size (C-value) is defined as the amount of deoxyribonucleic acid (DNA) in a haploid…

Q: Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that…

A: Phenylketonuria is an inborn error of metabolism which happened due to decreased or low metabolism…

Q: What family gene means and How do you name a gene?

A: Mendel proposed that something was being passed down from the parents to offspring through the…

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 inheritance patterns and general clinical features of some common genetic disorders?

A: Genetic disorder  can be defined as the health problem  which caused by one or more abnormalities in…

Q: Define retrograde,

A: Retrograde motion is an APPARENT change in the movement of the planet through the sky. It is not…

Q: Do we know what genes cause Down syndrome?

A: In simple words, Gene can be defined as the basic physical and functional unit of heredity. Genes…

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: How does mutation can affect the central dogma and the phenotype?

A: Mutations are the changes in the DNA sequence. The changes can be single base changes or a fragment…

Q: How Are Human Genetic Disorders Inherited?

A: Genetic disorders are caused due to one or many abnormalities in the genome, this is mainly caused…

Q: What is a genetic study ?

A: Gene is a stretch of DNA which codes for a particular trait. DNA and thus genes are found in…

Q: Bloom's Syndrome is an autosomal recessive disorder due to mutations in a helicase protein. Some of…

A: Bloom syndrome is an inherited disorder characterised by low height, a sun-induced skin rash, and a…

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 Prenatal genetic diagnosis ?

A: Prenatal diagnosis involves non-invasive and invasive techniques. The non-invasive technique…

Q: Why are most genetic diseases caused by recessive alleles?

A: Recessive alleles disorder:-

Q: How many genetic variants are there?

A: The specific portion in the genome that differs between the genome of two individuals is called…

Q: How many genetic diseases can we identify using DNA testing?

A: Genetic testing or DNA testing is done to identify errors or changes occurred in a DNA sequence or…

Q: What is terminal deletion in genetics?

A: A single break may cause terminal deletion; but, due to the need for specific chromosome tips…

Q: 1a) Explain how amino acids in casein could reach the liver, starting from the moment when the…

A: Amino acids are the monomers that make proteins.

Q: List the genetic disorders resulting from chromosome deletions:

A: The genetic disorders are caused due to absence or excess or abnormal arrangement of one or more…

Q: How is Down syndrome caused?

A: Human genetic disorders are caused due to the absence or excess or abnormal arrangement of one or…

Q: What is a segmental duplication?

A: DNA is the genetic material present within the nucleus in the cell. It maintains the heredity of the…

Q: What is a mutation, and how are they linked to genetic diseases?

A: It is asked what is a mutation, and how are they linked to genetic diseases? Mutation is caused by…

Q: What is the most common symptom in a genetic disorder and why? Do all people exhibit this symptom of…

A: Genetic disorder is a health problem that had resulted due to one or more abnormalities of a person'…

Q: What are mitochondrial mutations?

A: Mutations are defined as the change in the sequence of DNA of an organism due to any environmental…

Q: What is a recessive epistatic gene?

A: Epistasis Epistasis can be defined as the condition where phenotypic expression of one gene is…

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: Who was Mitochondrial Eve?

A: According to Abrahamic religion we come across theory of The Adam & The Eve who are 1st man…

Q: What is the phenotype associated with zygotic gene mutations?

A: ZYGOTE:- The male gamete "sperm" fuses with the female gamete "Ovum" and after this fusion "Zygote"…

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.