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.

Department of Hematology Armed Forces institute of Pathology Rawalpindi Pakistan

Department of Hematology Children Hospital Lahore Pakistan

Department of Hematology University of Health Sciences Lahore Pakistan

Department of Pathology Avicenna Medical College Lahore Pakistan

Department of Pathology Bolan Medical College Quetta Pakistan

Department of Physiology and Cell Biology University of Health Sciences Lahore Pakistan

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