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Single Nucleotide Polymorphisms in a Male Infertility-Related Gene CatSper

Journal of Reproduction and Contraception 2004年第1期15卷 27-32页

作者： WeiCHEN HongLI Song-shanJIANG Shi-lingCHEN Fu-qiXING assistedreproductivetechniquecenter NanfangHospitalFirstMilitaryMedicalUniversityGuangzhou510515China MolecularNeurogeneticsUnit MassachusettsGeneralHospitalHarvardMedicalSchoolBuilding14913thStreetCharlestownMA02129

Objective To identify single nucleotide polymorphisms (SNPs) of human CatSper gene, themouse homologous gene product, which plays a crucial role in mouse male *** We demonstrated a systematic screening of SNPs in coding regions and flankingintronic regions of human CatSper gene in a sample subset from a total 210 male individuals byDNA sequencing. Then we used PCR single-strand conformation polymorphism (SSCP) analy-sis to determine the allele frequencies of the possible SNPs among the whole 210 Chinese Hanmale *** Three SNPs, including two novels, were identified and their allele frequencies weredetermined in the 210 Chinese Han male individuals. These SNPs were assembled into largeSNP database that promises to enable the dissection of the genetic basis of disease.

关键词： CatSper infertility sperm motility single nucleotide polymorphisms (SNPs)

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Single Nucieotide Polymorphisms in a male infertility-related cene CatSper

引用

Asian Journal of Andrology 2004年第3期6卷 258-258页

作者： WeiChen Song-ShanJiang Shi-LingChen Fu-QiXing assistedreproductivetechniquecenter.NanfangHospital FirstMilitaryMedicalUniversityGuangzhou510515China MolecularNeurogeneticsUnit MassachttsettsGeneralHospitalHarvardMedicalSchoolCharlestownMA02129USA

Aim: To identify the single nucleotide polymorphisms (SNPs) of human CatSper gene, the mouse homologous gene product. Methods: A systematic screening of SNPs in coding regions and flanking intronic regions of human CatSper gene in a sample subset from 210 Chinese Han males by DNA sequencing was demonstrated. PCR single-strand conformation polymorphism (SSCP) analysis was used to determine the allele frequencies of the possible SNPs. Results: Three SNPs, including two novels, were identified and their allele frequencies determined in 210 males. These SNPs were assembled into large SNP database that permits the analysis of the genetic basis of different diseases.

关键词： CatSper infertility sperm motility single nucleotide polymorphisms

来源：

维普期刊数据库

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