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Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome Anne Frühmesser, Ph.D., Peter H. Vogt, Ph.D., Jutta Zimmer, Martina Witsch-Baumgartner, Ph.D., Christine Fauth, M.D., Johannes Zschocke, Ph.D., M.D., Germar-Michael Pinggera, M.D., Dieter Kotzot, M.D. Fertility and Sterility Volume 100, Issue 1, Pages (July 2013) DOI: /j.fertnstert Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions
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Figure 1 Flow chart of the elimination steps in the analysis of the results obtained through the single nucleotide polymorphism array analysis with the Illumina HumanOmni1-Quad v1.0 BeadChip. CNV = copy number variation. Fertility and Sterility , 81-87DOI: ( /j.fertnstert ) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions
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Figure 2 Result of the single nucleotide polymorphism (SNP) array analysis with the Illumina HumanOmni1-Quad v1.0 BeadChip (>1,000,000 SNPs) in a male patient with cryptozoospermia. Upper: Whole chromosome 1; lower: part of the band p22.3 on chromosome 1 with a heterozygous deletion of ∼11 kb located in the CLCA4 gene (red bar). The data were evaluated with the software Nexus Copy Number, version 5. Copy number information is given as log R ratio, the logged ratio of observed probe intensity to expected intensity (norm = 0). Genotype information is given as B allele frequency (BAF), with homozygosity for the arbitrary “B” allele indicated by BAF = 1, homozygosity for the arbitrary “A” allele indicated by BAF = 0, and heterozygosity for A/B indicated by BAF = 0.5. Fertility and Sterility , 81-87DOI: ( /j.fertnstert ) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions
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Figure 3 (A) Reverse complement sequence of the breakpoint-spanning junction fragment. Dashed lines indicate the breakpoint region of the deletion in intron 3 and intron 9 (NCBI build 37.1). Gray area indicates microhomology between the sequences at the two breakpoints. (B, C) Results of a CLCA4-specific reverse transcriptase polymerase chain reaction (PCR) assay with primers spanning exons 6–9 (expected product size, 594 bp) on RNA samples extracted from human male tissues and from leukocytes (B) and on RNA samples extracted from testicular biopsies of men with testicular pathologies (C) graded according to Sigg (26): grade 1, less than 10 spermatozoa; grade 2a, spermatogenesis until the level of spermatids; grade 2b, spermatogenesis until the level of spermatocytes; grade 2c, spermatogenesis until the level of spermatogonia; grade 3, isolated spermatogonia; grade 4, Sertoli-cell-only syndrome; grade 5, fibrostic, cell-free tubules. Similar expression in testis tissue with pathologies, including Sertoli cell-only syndrome, suggest that CLCA4 expression is found mainly in the somatic testis tissue cells with some increase probably in spermatids (C). (D) Immunohistochemical staining pattern with a CLCA4-specific antiserum on testicular tissue sections with normal spermatogenesis indicate visible CLCA4 expression in spermatocytes (spc) and in spermatids (spd). Fertility and Sterility , 81-87DOI: ( /j.fertnstert ) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions
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