Strategy for detection of IVS8polyT alleles with single base extension aproach.

<p>a) ‘5T/7T/9T extension primer’ in the presence of 5T allele is extended with dideoxyadenine while in the presence of 7T/9T alleles is extended with dideoxythymidine; b) ‘7T/9T extension primer’ in the presence of 7T allele is extended with dideoxyadenine while in the presence of 9T allele is extended with dideoxythymidine. Results of the two primers extension reactions give the final genotype. Extension primer sequences are given in 5′->3′ orientation, while the alleles represent the complementary (minus) strand.</p

Distribution of <i>CFTR</i> and IVS8polyT genotypes in the two groups of patients divided according to the histopathological results: obstructive azoospermia and nonobstructive azoospermia/oligozoospermia.

<p>[−] means no CF mutation detected on single chromosome.</p><p>Distribution of <i>CFTR</i> and IVS8polyT genotypes in the two groups of patients divided according to the histopathological results: obstructive azoospermia and nonobstructive azoospermia/oligozoospermia.</p

<i>CFTR</i> genotypes in 50 DNA samples used for validation of the SNaPshot method.

<p>Note: [−] means no CF mutation detected on single chromosome.</p><p><i>CFTR</i> genotypes in 50 DNA samples used for validation of the SNaPshot method.</p

<i>CFTR</i> multiplex SNaPshot primer extension mix with primer orientation, size and concentrations.

a<p>Data generated on ABI PRISM 3130 Genetic Analyzer with POP-4 polymer, 36-cm capillary array and sized against GeneScan-120 LIZ size standard.</p>b<p>Concentration in the SNaPshot extension primer mix adjusted to produce relatively equal peak heights.</p><p><i>CFTR</i> multiplex SNaPshot primer extension mix with primer orientation, size and concentrations.</p

Distribution of <i>CFTR</i> and IVS8polyT genotypes in infertile men with different sperm counts and fertile controls.

<p>Note: [−] means no CF mutation detected on single chromosome.</p><p>Distribution of <i>CFTR</i> and IVS8polyT genotypes in infertile men with different sperm counts and fertile controls.</p

Distribution of genotypes (compound heterozygous, heterozygous or normal) in patients with and without histopatological data.

<p>Note: [−] means no CF mutation detected on single chromosome.</p><p>Distribution of genotypes (compound heterozygous, heterozygous or normal) in patients with and without histopatological data.</p

Representative electrophoreograms of <i>CFTR</i> SNaPshot multiplex assay.

<p>a) Electrophoreogram of <i>CFTR</i> SNaPshot multiplex assay for detection of 12 common <i>CFTR</i> gene mutations showing a compound heterozygote for F508del/IVS8-5T. The fluorescence intensity is represented on the Y axis of the electrophoreogram and the fragments’ size on the X axis. N = normal allele (wild type) M = mutant allele; b-d) Electrophoreograms of samples with different IVS8polyT genotypes: 5T/7T (b), 5T/9T (c) and 7T/9T (d).</p

Concordance of blastocyst ploidy and karyotype per sample and per chromosome assessed by NIPGS vs TE vs WB.

<p>Concordance of blastocyst ploidy and karyotype per sample and per chromosome assessed by NIPGS vs TE vs WB.</p

Summary of NGS results from NIPGS and TE samples obtained from the same blastocyst in fresh cases.

<p>Summary of NGS results from NIPGS and TE samples obtained from the same blastocyst in fresh cases.</p

Primers used for PCR amplification of seven <i>CFTR</i> exons and intron 8 fragment.

a<p>Legacy name.</p>b<p>The exon/intron numbering is based on legacy exon intron nomenclature (<a href="http://www.genet.sickkids.on.ca/" target="_blank">http://www.genet.sickkids.on.ca/</a>).</p><p>Primers used for PCR amplification of seven <i>CFTR</i> exons and intron 8 fragment.</p