Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Mahima Kaushik

Publications

• Review Article
  Genetic Variations: Heroes or Villains
  Author(s): Mahima Kaushik, Swati Chaudhary, Swati Mahendru, Mohan Kumar and Shrikant KukretiMahima Kaushik, Swati Chaudhary, Swati Mahendru, Mohan Kumar and Shrikant Kukreti
  
  Gene pool of every organism has shown a wide occurrence of genetic variations. Variations have not only been associated with diseases like cancer, turner syndrome, sickle cell anaemia, cystic fibrosis etc., but some of them have even been proved to be beneficial in certain cases like for increasing bone density, lowering down cholesterol level, and for developing malaria resistance. Genetic variations or switches have also been explored for their significant role in evolution of human species. Monogenic diseases are the inherited disorders caused by the mutations in a single gene. Single Nucleotide Polymorphism, structural variants and genomic rearrangements are considered as some of the forms of genetic mutations. Genetic mutations are the fundamental cause of some monogenic disorders such as Schizophrenia, Alzheimer’s disease, Hutchinson-Gilford Progeria syndrome (HGPS), Prote.. View More»
  DOI: 10.4172/2472-1115.1000113

  Abstract PDF

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