Fig. 1
Genetic abnormalities identified by genetic testing.A) Pedigree of the family with the CFTR variant (c.1210-11 T > G). The arrow indicates the proband. B) qPCR amplification plots for various Y-chromosome markers (SRY, ZFX/ZFY in blue; sY84, sY86 in green; sY127, sY134 in orange; sY254, sY255 in red). The plots show the cycle number versus normalized reporter dye fluorescence (ΔRn = Rn—baseline). The black arrows indicate the absence of sY84 and sY86 signals below the detection thresholds. C) PCR analyses of AZFa deletion markers (sY82, sY1064 for the proximal border; sY1182, sY88 for the distal border) performed on genomic DNA extracted from peripheral blood samples of the proband, the proband’s father, the proband’s brother, a normal male as the positive control, and the proband’s mother as a negative control. Blank control: ddH2O. Molecular-weight standard (M) for comparison. D) Schematic diagram of the AZFa, b, c region on the long arm of the human Y chromosome, depicting the partial AZFa deletion in the current case (red box) and previous cases (green box). E) PCR analyses of USP9Y exon 1, USP9Y exon 46, DDX3Y exon 1, and DDX3Y exon 17 were performed on genomic DNA extracted from peripheral blood samples of the proband, the proband’s father, the proband’s brother, a normal male as the positive control, and the proband’s mother as a negative control. Blank control: ddH2O. Molecular-weight standard (M) for comparison. F) Depiction of the CFTR variant (c.1210-11 T > G) localization in the genome structures. G) Sanger sequencing results showing the CFTR variant in the pedigree, with variant positions indicated by red arrows