AZFcAzoospermia Factor
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For AZFa, AZFb and AZFc regions of the Y chromosomes, PCR reactions were performed by using sY14, sY86, sY127 and sY254 regions primers, respectively.
The first focused on production, which uncovered practices that result in limiting freedom of competition between the EFIC and the AZFC.
MSY region on the Y chromosome is divided into three parts: AZFa, AZFb, and AZFc 4.
The DNA was then subjected to polymerase chain reaction (PCR) and assayed using the following tagged sequences: ZFY (control), sy14 (SRY); AZFa specifically, sy84, sy86, sy625, sy114; AZFb specifically, sy117, sy127, sy129, sy134, sy143; AZFc specifically, sy152, sy147, sy254, sy255, sy157; and finally heterochromatin sy160.
Among the infertile cases, there were 4 (3.48%) AZFa, 2 (1.74%) AZFb, 3 (2.61%) AZFc and 7 (6.09%) AZFd region microdeletions.
While the effects of the known deletions of the AZFc region appear to be limited to sperm production, substantially more harmful health effects are apt to arise from mutations elsewhere.
A novel, 1.6-Mb deletion in Y-chromosome, that occupies more than half of the AZFc region and designated as "gr/gr," is a risk factor for spermatogenic failure.8 The gr/gr deletion removes part of the AZFc region, including two copies of DAZ (deleted in azospermia) and one copy of CDY1 (chromodomain protein, Y-linked) as well as several other transcription units.
AZFc region contains 8 gene families including BPY2, CDY, DAZ, CSPG4LY, GOLGAZLY, TTY3.1, TTY4.1, and TTY7.1 among which the 5 former are expressed only in the testis (4,5).
We also described abnormal prophase of the first meiosis in patients with AZFb or AZFc microdeletions (9,10).
Among the 134 infertile men with Y microdeletions, the most frequent microdeletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZFabc(Yq), Yp(SRY)+Yq, and partial AZFc regions.