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대한생식의학회지 제32권 제3호 2010년
한국 남성 불임환자에서 Protamine 1과 2 유전자의 Single Nucleotide Polymorphism에 관한 연구
성균관대학교 의과대학 삼성제일병원 생식생물학 및 불임연구실1, 비뇨기과학교실2, 산부인과학교실3
이형송1, ,최혜원1,박용석1,서주태2,궁미경3,전진현1*
Screening of the Single Nucleotide Polymorphisms in the Protamine 1 and 2 Genes of Korean Infertile Men
Hyoung Song Lee1, Hye Won Choi1, Yong Seog Park1, Ju Tae Seo2, Mi Kyoung Koong3, Jin Hyun Jun1*
1Laboratory of Reproductive Biology and Infertility, 2Department of Urology, 3Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea
.
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.
키워드 : Protamine 1 and 2 (PRM1 and PRM2), Single nucleotide polymorphism (SNP), Fertility, Haploinsufficiency, Spermatogenesis
교신저자 : hslee99@unitel.co.kr r
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