24Feb 2017

MONOGENIC DISORDERS: AN OVERVIEW.

  • Centre of Agricultural Biochemistry and Biotechnology, University of Agriculture, Faisalabad, Pakistan.
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Monogenic Disorders (MDs) are the single-gene associated disorders. Approximately 5000 types of these disorders have been known by now. These have been found most commonly in the developing countries, more specifically in the rural areas with the highest ratio due to the consanguineous marriages. The recessive or minor unexpressed disorder carrier gene also gets expressed within their offspring. Depending upon the global prevalence and other various characteristics of the monogenic disorders, these have been classified on the basis of their patterns of inheritance i.e. Autosomal or X-Linked. Likewise, Dominant or Recessive. Several common monogenic disorders have been discussed comprehensively with their etiology, features, effects, diagnosis and cure. Osteogenesis Imperfecta (OGI), Retinoblastoma (RB), Cystic Fibrosis, Thalassemia, Fragile X Syndrome (FXS), Hypophosphatemia, Hemophilia and Ichthyosis are included in the category of MDs and are discussed in detail. Most of the monogenic disorders are rare to happen even their causes are still unknown while some are quite common with known causes. Various diagnostic techniques and the treatment methods have been developed for them which have not been proved enough to treat the disorders by conventional approaches. Therefore, some recent and updated approaches are also being implemented in the field of treatment of these disorders that includes the Gene Therapy, Stem Cell Transplantation and Bone Marrow Transplant.

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[Usman Babar. (2017); MONOGENIC DISORDERS: AN OVERVIEW. Int. J. of Adv. Res. 5 (Feb). 1398-1424] (ISSN 2320-5407). www.journalijar.com

Usman Babar
Centre of Agricultural Biochemistry and Biotechnology (CABB), University of Agriculture, Faisalabad

DOI:

Article DOI: 10.21474/IJAR01/3294      
DOI URL: http://dx.doi.org/10.21474/IJAR01/3294

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