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.
On bes farkli primer dizisi kullanilarak gerceklestirilen multipleks PCR isleminden sonra agaroz jel elektroforezi ile Y kromozomunun AZFa, AZFb, AZFc
ve AZFd bolge mikrodelesyonlari belirlendi.
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.
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.
region contains 8 gene families including BPY2, CDY, DAZ, CSPG4LY, GOLGAZLY, TTY3.
The absence of AZFb is associated with maturation arrest at meiosis, whereas micro-deletion of AZFc
results in variable clinical and histologic phenotypes, ranging from oligozoospermia to SCOS (6).
In 10 of the cases AZFc
deletion, in 1 case AZFb deletion and in 1 case both deletions were identified.
The increase of primary spermatocytes was particularly shown in AZFb and AZFc
microdeletions (9,10), but with fundamentally different meiotic pictures.
Frequency of Y-chromosome microdeletion in AZF regains Author name Number Positive AZFc
AZFb AZFd of cases cases Zaimy  50 4 3.
Of the nine subjects, two had deletions in AZFa, one in AZFb, three in AZFc
and three in AZFb+c regions.