Variants in the Eppin gene show association with semen quality in Han-Chinese population Xinliang Ding, Jie Zhang, Zenghui Bian, Yankai Xia, Chuncheng.

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Presentation transcript:

Variants in the Eppin gene show association with semen quality in Han-Chinese population Xinliang Ding, Jie Zhang, Zenghui Bian, Yankai Xia, Chuncheng Lu, Aihua Gu, Yingchun Li, Ling Song, Shoulin Wang, Xinru Wang Reproductive BioMedicine Online Volume 20, Issue 1, Pages 125-131 (January 2010) DOI: 10.1016/j.rbmo.2009.10.025 Copyright © 2009 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Overview of selected tagging single nucleotide polymorphisms (tagSNPs) and their characteristics. (A) Location of the 6 SNPs within the Eppin gene and 1500 base pairs (bp) upstream and 1500 bp downstream region. The exons are shown as black boxes and the 5′ and 3′ untranslated region are indicated by grey boxes. (B) The four tagSNP and SNP that are indirectly measured by them are listed with corresponding r2 values. UTR=untranslated region. E=exon; MAF=minor allele frequency. Reproductive BioMedicine Online 2010 20, 125-131DOI: (10.1016/j.rbmo.2009.10.025) Copyright © 2009 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Restriction fragment length polymorphism (RFLP) analysis of the single nucleotide polymorphisms. (A) rs6124715 genotype patterns of GG [123 base pairs (bp) and 16bp]; GC (139, 123 and 16bp); CC (139bp). (B) rs2231829 genotype patterns of CC (280 and 156bp); CT (436, 280 and 156bp); TT (436bp). (C) rs2227290 genotype patterns of GG (192 and 142bp); GT (334, 192 and 142bp); TT (334bp). The fragments smaller than 100bp are non-specific PCR products. (D) rs11594 genotype patterns of AC (115, 90 and 25bp); CC (90 and 25bp); AA (115bp). Note: the fragments smaller than 90bp are not shown. M=DNA size marker. Reproductive BioMedicine Online 2010 20, 125-131DOI: (10.1016/j.rbmo.2009.10.025) Copyright © 2009 Reproductive Healthcare Ltd. Terms and Conditions