Reevaluation of azoospermic factor c microdeletions using sequence-tagged site markers with confirmed physical positions from the GenBank database  Masato Fukushima, M.D., Eitetsu Koh, M.D., Ph.D., Jin Choi, B.S., Yuji Maeda, M.D., Ph.D., Mikio Namiki, M.D., Ph.D., Atsumi Yoshida, M.D., Ph.D.  Fertility and Sterility  Volume 85, Issue 4, Pages 965-971 (April 2006) DOI: 10.1016/j.fertnstert.2005.09.060 Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 Sequence-tagged site markers spanning partial AZFb and AZFc regions distal to SMCY. Markers are numbered in order starting with SMCY, from the 5′ terminal to the 3′ terminal. Yellow: presence of identical sequence on autosome in UCSC; pink: presence of two copies in AZFb, AZFc regions; blue: presence of three copies in partial AZFb, AZFc regions. No 25: presence of identical sequence on the short arm of Y chromosome (Yp) in the UCSC database. Fukushima. Accurate mapping of AZFc microdeletions. Fertil Steril 2006. Fertility and Sterility 2006 85, 965-971DOI: (10.1016/j.fertnstert.2005.09.060) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 Sequence-tagged site markers spanning AZFa, AZFb, and AZFc. The long arm of the Y chromosome, the classification of AZFa, -b, and -c regions, and the X-degenerate and ampliconic regions are shown. The locations and directions of palindromes 1, 2, and 3 are also shown. Row b: markers are numbered in order, starting with SMCY, from the 5′ terminal to the 3′ terminal. Suffixes attached to the numbers sequentially indicate the number of copies. Row c: independent copies of each STS on the short arm of the Y chromosome, which are arranged from the 5′ terminal to the 3′ terminal, including the AZFa probe, are indicated in white. Pink: those present in two copies. Light blue: those present in three copies. Row d: conventional STS names (sY). Row e: autosomal STS markers obtained from the UCSC database (http://www.genome.ucsc.edu/) and the locations of the same sequences on Yp. Asterisks (*) indicate those for which bands were observed in female DNA. Row f: number symbols (#) indicates reliable markers for microdeletion of AZFb and AZFc, and candidate markers of deletion of palindromes. Section g: patient deletion patterns. Blue, red: absence and presence of deletions, respectively. Yellow: deletions resulting from STS markers that are not specific for the Y chromosome, and thus could not be evaluated. Fukushima. Accurate mapping of AZFc microdeletions. Fertil Steril 2006. Fertility and Sterility 2006 85, 965-971DOI: (10.1016/j.fertnstert.2005.09.060) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 3 Study of Y chromosome specificity of each STS. Lane 1: size marker; lane 2: normal female 1; lane 3: normal female 2; lane 4: normal female 3; lane 5: male positive control. SHGC-1348 was used as a control. Fukushima. Accurate mapping of AZFc microdeletions. Fertil Steril 2006. Fertility and Sterility 2006 85, 965-971DOI: (10.1016/j.fertnstert.2005.09.060) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions