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
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.
La mayoria de microdeleciones presentes en el AZFc
afectan al gen DAZ, convirtiendose en el principal candidato causante de azoospermia en pacientes infertiles; un estudio del gen DAZ copia especifico se relaciona con oligozoospermia severa y azoospermia no obstructiva, en pacientes con patologias testiculares, demostrando que DAZ/1 y DAZ/2, se asocian con la alteracion; de igual forma el fenotipo de testiculopatias severas idiopaticas se da por la falta de expresion del gen DAZ a nivel de estos organos (25).
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.
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).
In 10 of the cases AZFc
deletion, in 1 case AZFb deletion and in 1 case both deletions were identified.
We also described abnormal prophase of the first meiosis in patients with AZFb or AZFc
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