GENETIC MAPPING OF THREE LARGE CONSANGUINEOUS KASHMIRI FAMILIES WITH AUTOSOMAL RECESSIVE POLYDACTYLY SCREENED FOR FIVE PREVALENT GENES

Authors

  • Iqra Hameed Department of Chemistry, University of AJK, Muzaffarabad, Pakistan
  • Zahid Azeem Department of Biochemistry, AJK Medical College Muzaffarabad, Pakistan https://orcid.org/0009-0005-4637-8134
  • Rizwan Masud Department of Physiology, Rai Medical College, Sargodha, Pakistan
  • Muhammad Arif Department of Pharmacological, AJK Medical College, Muzaffarabad, Pakistan
  • Fauzia Aitazaz Department of Physiology, AJK Medical College, Muzaffarabad, Pakistan
  • Mamoona Azad Department of Chemistry, University of AJK, Muzaffarabad, Pakistan
  • Raja Amjad Waheed Khan Department of Chemistry, University of AJK, Muzaffarabad, Pakistan
  • Aamir Rafique Department of Biochemistry, AJK Medical College, Muzaffarabad, Pakistan
  • Imtiaz Ahmad Department of Biochemistry, AJK Medical College, Muzaffarabad, Pakistan

DOI:

https://doi.org/10.69656/pjp.v20i3.1611

Keywords:

Polydactyly, IQCE gene, GLI1 gene, heterozygosity, unexplored genetic segment

Abstract

Background: Polydactyly, a congenital hand defect characterized by extra digits, is more complicated than simple duplication, delicately weaving aberrant anatomical components with hypoplasia, uneven joint shapes, and unusual tendon and ligament placements. The dominant theory attributes its genesis to a group of five genes: GLI1 (chromosome 12q13.3), ZNF141 (chromosome 4p16.3), IQCE (chromosome 7p22.2), KIAA0825 (chromosome 5q15), and FAM92A (chromosome 8q22.1). The objective of this study is to identify the most prevalent genes responsible for polydactyly in the population of Azad Jammu and Kashmir. Method: The microsatellite markers used for PCR amplification and subsequently testing linkage to known genes are presented below. Represent electropherograms of ethidium bromide-stained 8% non-denaturing polyacrylamide gels (PAGEs) obtained by genotyping microsatellite markers linked on chromosome 8q22.1, 5q15, 12q13.3, 4p16.3, and 7p22.3 in family A, B, C. Genetic positions (in centiMorgan) for these marker loci were obtained from Rutgers combined linkage-physical map of the human genome. Results: Screening of most prevalent genes that include GLI1 (chromosome 12q13.3), ZNF141 (chromosome 4p16.3), IQCE (Chromosome 7p22.2), KIAA0825 (chromosome 5q15) and FAM92A (8q22.1) showed heterozygosity on every locus. Already known disease loci were further narrowed down with highly polymorphic markers which failed to find any linkage. Conclusion: The previously reported genotypic-phenotypic relation was not revealed in these 3 families signifying the probable involvement of unexplored genetic segments in intricate pathogenesis of this condition, emphasizing the need for further exploration beyond the established genetic association.

Pak J Physiol 2024;20(3):44–8,  DOI: https://doi.org/10.69656/pjp.v20i3.1611

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Author Biography

Zahid Azeem, Department of Biochemistry, AJK Medical College Muzaffarabad, Pakistan

Department of Biochemistry, AJK Medical College, Muzaffarabad, Pakistan

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Published

30-09-2024

How to Cite

1.
Hameed I, Azeem Z, Masud R, Arif M, Aitazaz F, Azad M, et al. GENETIC MAPPING OF THREE LARGE CONSANGUINEOUS KASHMIRI FAMILIES WITH AUTOSOMAL RECESSIVE POLYDACTYLY SCREENED FOR FIVE PREVALENT GENES. Pak J Phsyiol [Internet]. 2024 Sep. 30 [cited 2024 Nov. 21];20(3):44-8. Available from: https://pjp.pps.org.pk/index.php/PJP/article/view/1611

Issue

Vol. 20 No. 3 (2024): Pakistan Journal of Physiology

Section

Original Article

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