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. 2024 Oct 18;27(2):231–238. doi: 10.4103/aja202478

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Copyright: ©The Author(s)(2024)

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Structure and missing segments of the AZF region of the Y chromosome. (a) The Y chromosome consists of a long arm, a short arm, and a functional area. (b) The AZF regions have a palindrome structure. These regions contain a series of highly similar positive and negative repetitive sequences that encode the sex-determining region of Y chromosome gene (SRY) responsible for male gender. The amplicon of these regions includes eight classic palindrome structures (P1–P8).4 (c) The AZF region also contains multiple copy family sequences of different amplicons, which are named after fluorescent probes of different colors: blue (b), turquoise (t), green (g), red (r), yellow (y), and gray (gr).8 u represents nonsingle copy sequences. (d) The sequence tag site (STS) labeled with multiple PCR markers corresponds to the sequence position of the AZF region. (e) In 116 cases, the missing AZF region was observed, and its location and proportion are shown. PCR: polymerase chain reaction; PR: pseudo autosomal region; AZF: azoospermia factor; Yp: short Y arm; Yq: long Y arm.