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

U. Aymun, S. Iram, I. Aftab, S. Khaliq, A. Nadir, A. Nisar, S. Mohsin

. 2017 ; 161 (2) : 158-163. [pub] 20170612

Jazyk angličtina Země Česko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18016106

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.

Citace poskytuje Crossref.org

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$a Iram, Saima $u Department of Hematology, University of Health Sciences, Lahore, Pakistan; Department of Pathology, Bolan Medical College, Quetta, Pakistan
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$a Aftab, Iram $u Department of Hematology, University of Health Sciences, Lahore, Pakistan
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$a Khaliq, Saba $u Department of Physiology and Cell Biology, University of Health Sciences, Lahore, Pakistan
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$a Nadir, Ali $u Department of Hematology, Armed Forces institute of Pathology, Rawalpindi, Pakistan
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$a Nisar, Ahmed $u Department of Hematology, Children Hospital Lahore, Pakistan
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