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Wednesday, February 28, 2018

The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.

Most common disorders




Human Genetic Diseases to Know - Tay Sachs, Downs, Huntington's, Sickle-Cell, Klinefelter's, Color-blindness.

  • P â€" Point mutation, or any insertion/deletion entirely inside one gene
  • D â€" Deletion of a gene or genes
  • C â€" Whole chromosome extra, missing, or both (see Chromosome abnormality)
  • T â€" Trinucleotide repeat disorders: gene is extended in length

Full genetic disorders list


Neo Sci Human Genetic Disorders Laminated Poster, 23
Neo Sci Human Genetic Disorders Laminated Poster, 23" Width x 35 .... Source : www.amazon.com

References


FlyBase portals to human disease research using Drosophila models ...
FlyBase portals to human disease research using Drosophila models .... Source : dmm.biologists.org

Further reading


Current status of understanding of the genetic etiology of ...
Current status of understanding of the genetic etiology of .... Source : www.jpgmonline.com

  • "Specific Genetic Disorders". National Human Genome Research Institute (NHGRI). genome.gov. Retrieved 15 November 2017. 
  • "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) â€" an NCATS Program". rarediseases.info.nih.gov. NIH.gov. Retrieved 15 November 2017. 

Reticulate pigmentary disorders Sardana K, Goel K, Chugh S ...
Reticulate pigmentary disorders Sardana K, Goel K, Chugh S .... Source : www.ijdvl.com

 
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