Y Chromosome Microdeletion
- AZFb (P5/proximal P1),
- AZFbc (P5/distal P1 or P4/distal P1)
- AZFc (b2/b4)
Deletions in these regions remove one or more of the candidate genes (DAZ, RBMY, SP9Y, and DBY) and cause severe testiculopathy leading to male infertility. The most frequent deletion type is the AZFc region deletion (~80%) followed by AZFa (0.5–4%), AZFb (1–5%) and AZFbc (1–3%) deletion. Deletions which are detected as AZFabc are most likely related to abnormal karyotype such as 46, XX male or iso(Y).
Detection of microdeletions is performed by polymerase chain reaction (PCR) amplification of selected regions of the Y chromosome. At least two STS loci in each AZF region should be analysed for molecular screening. However, in light of novel data on genotype–phenotype correlations, the extension analysis for the AZFa and AZFb deletions is now routinely recommended.
Mylab Discovery Solutions provides Y Chromosome Microdeletion Screening kit which allows two multiplex PCR reactions designed for the analysis of two STR markers in each AZF deletion regions along with internal quality control markers on the Y chromosome and confirmed by agarose gel analysis.
Further Y Chromososme Microdeletion Extension Analysis kit
determines extension of deletion in the AZF regions by screening of additional STR markers by PCR.
According to EAA/EMQN guidelines, before reporting of microdeletions, it is mandatory to perform extension analysis with the second choice markers after basic screening test.
|#||Product||Cat. No.||Reaction size/kit|
|1||Y chromosome Microdeletion Screening Kit||DYMS25||25|
|2||Y chromosome Microdeletion Screening Kit||DYMS50||50|
|3||Y chromosome Microdeletion Extention analysis Kit||DYEA25||25|
|4||Y chromosome Microdeletion Extention analysis Kit||DYEA50||50|
|5||Y chromosome Microdeletion Extention analysis Kit||DYEA100||100|
|6||Y chromosome Microdeletion Detection Kit (Screening and Extension both)||DYMD25||25|
|7||Y chromosome Microdeletion Detection Kit (Screening and Extension both)||DYMD50||50|