Screening for mutations in two exons of FANCG gene in Pakistani population
| Autor: | Ahmed Nisar, Iram Aftab, Shahida Mohsin, Saba Khaliq, Saima Iram, Ujala Aymun, Ali Nadir |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine FANCG Gene diepoxybutane test lcsh:Medicine fancg gene Biology medicine.disease_cause General Biochemistry Genetics and Molecular Biology 03 medical and health sciences Exon Fanconi anemia medicine Humans Mass Screening Pakistan Fanconi Anemia Complementation Group G Protein Gene fanconi anemia Genetics Mutation Fanconi Anemia Complementation Group A Protein lcsh:R FANCC Gene Exons medicine.disease Molecular biology FANCA 030104 developmental biology Population Surveillance Female screening for mutation Gene pool |
| Zdroj: | Biomedical Papers, Vol 161, Iss 2, Pp 158-163 (2017) |
| ISSN: | 1804-7521 1213-8118 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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