Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Screening of the Single Nucleotide Polymorphisms in the Protamine 1 and 2 Genes of Korean Infertile Men

한국 남성 불임환자에서 Protamine 1과 2 유전자의 Single Nucleotide Polymorphism에 관한 연구

  • Lee, Hyoung-Song (Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Choi, Hye Won (Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Park, Yong-Seog (Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Seo, Ju Tae (Department of Urology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Koong, Mi Kyoung (Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine) ;
  • Jun, Jin Hyun (Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine)
  • 이형송 (성균관대학교 의과대학 삼성제일병원 생식생물학 및 불임연구실) ;
  • 최혜원 (성균관대학교 의과대학 삼성제일병원 생식생물학 및 불임연구실) ;
  • 박용석 (성균관대학교 의과대학 삼성제일병원 생식생물학 및 불임연구실) ;
  • 서주태 (성균관대학교 의과대학 삼성제일병원 비뇨기과학교실) ;
  • 궁미경 (성균관대학교 의과대학 삼성제일병원 산부인과학교실) ;
  • 전진현 (성균관대학교 의과대학 삼성제일병원 생식생물학 및 불임연구실)
  • Published : 2005.09.30
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Abstract

Objective: Although several genetic factors have been associated with defects in human spermatogenesis, the unambiguous causative genes have not been elucidated. The male infertility by haploinsufficiency of PRM1 or PRM2 has been reported in mouse model. The aim of this study was to identify the single nucleotide polymorphisms (SNPs) of PRM1 and PRM2, related to the genotype of Korean infertile men. Methods: Genomic DNAs were extracted from peripheral bloods of infertile men with oligozoospermia or azoospermia, and analyzed using polymerase chain reaction (PCR) and direct sequencing. We carried out the direct sequencing analysis of amplified fragments in PRM1 (557 nucleotides from -42 to 515) and PRM2 (599 nucleotides from 49 to 648) genes, respectively. Results: Three SNPs of coding region in the PRM1 gene was found in the analysis of 130 infertile men. However, the SNPs at a133g (aa 96.9%, ag 3.1% and gg 0.0%), c160a (cc 99.2%, ca 0.8% and aa 0.0%) and c321a (cc 56.9%, ca 35.4% and aa 7.7%) coded the same amino acids, in terms of silence phenotypes. On the other hand, as results of the PRM2 gene sequencing in 164 infertile men, only two SNPs, g398c (gg 62.2%, gc 31.1% and ga 6.7%) and a473c (aa 63.4%, ac 29.9% and cc 6.7%), were identified in the intron of the PRM2 gene. Conclusions: There was no mutation and significant SNPs on PRM1 and PRM2 gene in Korean infertile men. These results suggest that the PRM1 and PRM2 genes are highly conserved and essential for normal fertility of men.

Keywords

References

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