Biomedical papers, 2017 (vol. 161), issue 2

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2017, 161(2):158-163 | 10.5507/bp.2017.030

Screening for mutations in two exons of FANCG gene in Pakistani population

Ujala Aymuna,b, Saima Irama,c, Iram Aftaba, Saba Khaliqd, Nadir Alie, Nisar Ahmedf, Shahida Mohsina
a Department of Hematology, University of Health Sciences, Lahore, Pakistan
b Department of Pathology, Avicenna Medical College, Lahore, Pakistan
c Department of Pathology, Bolan Medical College, Quetta, Pakistan
d Department of Physiology and Cell Biology, University of Health Sciences, Lahore, Pakistan
e Department of Hematology, Armed Forces institute of Pathology, Rawalpindi, Pakistan
f Department of Hematology, Children Hospital Lahore, Pakistan

Background: Fanconi anemia is a rare autosomal recessive disorder of genetic instability. It is both molecularly and clinically, a heterogeneous disorder. Its incidence is 1 in 129,000 births and relatively high in some ethnic groups. Sixteen genes have been identified among them mutations in FANCG gene are most common after FANCA and FANCC gene mutations.

Objective: To study mutations in exon 3 and 4 of FANCG gene in Pakistani population.

Methods: Thirty five patients with positive Diepoxybutane test were included in the study. DNA was extracted and amplified for exons 3 and 4. Thereafter Sequencing was done and analyzed for the presence of mutations.

Results: No mutation was detected in exon 3 whereas a carrier of known mutation c.307+1 G>T was found in exon 4 of the FANCG gene.

Conclusion: Absence of any mutation in exon 3 and only one heterozygous mutation in exon 4 of FANCG gene points to a different spectrum of FA gene pool in Pakistan that needs extensive research in this area.

Keywords: Fanconi anemia, FANCG gene, screening for mutation, diepoxybutane test

Received: November 9, 2016; Accepted: May 29, 2017; Prepublished online: June 12, 2017; Published: June 14, 2017


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