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Corresponding Author

Muhsin Jamil Abdulwahid

Authors ORCID

https://orcid.org/0000-0001-5636-5867

Document Type

Original Article

Abstract

P-glycoprotein (P-gp), a product of the ABCB1 gene (ATP binding cassette subfamily B member 1) or MDR: multiple drug resistance 1 gene is expressed in various parts of the human body, like testis. The ABCB1 gene has several single nucleotide polymorphisms in its exons and introns that have been discovered. This study used DNA sequencing and polymerase chain reaction (PCR) to discover and characterize nucleotide variations in exons 27 of the ABCB1 gene in seven infertile and three normally fertile individuals. In this study, a set of primers were designed using the NCBI primer designing tool to amplify 394bp the exons 27 of ABCB1 gene and then the amplified product was sequenced by Sanger technology. Four different types of nucleotide variations have been identified in the two fertile and two infertile samples. However, one fertile sample and five infertile samples did not exhibit any changes. Three types of nucleotide variations were already described in the NCBI database they are 87509329 A>G (rs1045642 A/C/G/T) in exon 27, 87509216 A>C (rs2235047 A/C/G) and 87509195 G>A (rs2235048 G/A/C) both in intron 27. The final nucleotide change that was detected in this study was 87509240 A>T in intron 27 with heterozygous allele type (A and T allele) that was undefined in the NCBI database and consider a new recording nucleotide variation. According to the results of this study, no obvious associations have been observed between the nucleotide polymorphisms in exon 27 and infertility in the Iraqi Kurdish population in Erbil city.

Keywords

ABCB1 gene polymorphism, Male infertility, PCR technique, DNA sequencing, Nucleotide change.

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