Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family

Authors

  • Shoaib Ur Rehman Department of Biotechnology, University of Science and Technology, Bannu, Pakistan
  • Shahid Mahmood Baig National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan
  • Larse Hasen Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
  • Ilyas Ahmad National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan
  • Rahmat Ali Department of Biotechnology, University of Science and Technology, Bannu, Pakistan
  • Masroor Hussain Department of Biotechnology, University of Science and Technology, Bannu, Pakistan

DOI:

https://doi.org/10.47391/JPMA.286929

Abstract

Intellectual disability (ID) or Mental Retardation (MR) is a broad term, which occupies several medical directions. It is extremely heterogeneous and has about reported 25,000 genes of which half of the genes expression have been found in the brain. Intellectual disability causes severe disability and has a worldwide prevalence of
around 2% while autosomal recessive form of ID causes almost 25% of all non syndromic (NS) ID cases. A consanguineous family (who will be referred as) MR7 with phenotype of ID was sampled in Swat region of Pakistan.All affected individuals in the family were observed having a low IQ and cognitive mutilation with no sign of biochemical, skeletal or neurological abnormalities.

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Published

2019-11-15

How to Cite

Shoaib Ur Rehman, Shahid Mahmood Baig, Larse Hasen, Ilyas Ahmad, Rahmat Ali, & Masroor Hussain. (2019). Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family. Journal of the Pakistan Medical Association, 69(12), 1903–1906. https://doi.org/10.47391/JPMA.286929

Issue

Vol. 69 No. 12 (2019): DECEMBER

Section

Short Communication / Short Report