, AZFb and AZFc regions of the Y chromosomes, PCR reactions were performed by using sY14, sY86, sY127 and sY254 regions primers, respectively.
Multiplex A: ZFY: 495 bp, sY84: 326 bp (AZFa
), sY134: 301 bp (AZFb), sY255: 126 bp (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.
There are two main genes in AZFa
region including DFFRY and DBY.
Sex-Mismatched Controls ** Test/Reference T/R Ratio Case 7 Case 11 Target Female/Male Male/Female No./Name Chromosome (XX/XY) (XY/XX) 276 STS 3' X 1.456# 0.755* 277 STS 5' X 1.318# 0.653* 278 KAL X 1.068 0.723* 282 AR 3' X 1.396# 0.562* 283 XIST X 1.212# 0.791* 286 SRY Y 1.180 1.713# 287 AZFa
region Y 0.800* 1.891# ** T/R indicates normalized test-to-reference fluorescence ratio; bold type, gain; and italic type, loss.
Computational Analysis of High Risk Missense Variant in Human UTY Gene: A Candidate Gene of AZFa
Y mikrodelesyonu analizi icin genomik DNA periferik kandan standart teknikler kullanilarak izole edildikten sonra Y kromozomu uzerinde 13 sequence tagged site (STS) bolgesi (ZFX/ZFY, SRY, AZFa
: sY84, sY86, DFFRY, DBY, AZFb: sY117, sY125, sY127, sY134, AZFc: DAZ gene, sY254, sY255) iceren Y mikrodelesyonu kiti kullanildi (Genequality AZF MX, AB-Analitica, Padova, Italya).
In the AZF region, three loci termed as AZFa
, AZFb and AZFc have been identified.
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.
Large deletions of the AZF regions on the Y-chromosome (AZFa
, AZFb and AZFc) were shown to result in fertility problems in males as long ago as 1976 (1).