PCR-Capillary Electrophoresis

Clinical Application

Y chromosomal microdeletion is a tiny DNA fragment missing occuring in the AZF region on the long arm of Y chromosome. Among the male sterile patients caused by spermatogenetic malfunction, the incidence rate of Y chromosomal microdeletion is the second genetic factor. According to statistics of WHO, Y chromosomal microdeletion exists in about 10%~15% of azoospermia and oligospermia patients. 

At present, it is widely accepted that AZF is divided into 3 regions, i.e. AZFa, AZFb and AZFc. Each region has a clear STS for identification. Any one or multiple missing in these regions of AZF will lead to spermatogenetic malfunction, creating oligospermia, asthenospermia, teratozoospermia and even azoospermia, finally resulting in sterility. For patients having all deletions in three regions of AZFa, AZFb and AZFc, 100% of them show azoospermatism, and cannot obtain sperms from testicles through any means; for patients deleted in AZFa, the clinical manifestation is sertoli cell only syndrome (SCO syndrome) and azoospermatism. They can not even obtain sperms through testicular sperm aspiration, nor be implemented with intracytoplasmic sperm injection for assisted reproduction; for patients deleted in AZFb or AZFbc, the clinical manifestation is sertoli cell only syndrome (SCO syndrome) or spermatogenesis is blocked which leads to azoospermatism, they can’t also obtain sperms through testicular sperm aspiration; patients deleted in AZFc are common in azoospermatism or oligospermia, clinical and testicular histology phenotypes are various; patients deleted in AZFc generally remain the ability of spermatogenesis, and can inherite to his male offsprings in natural conditions in rare circumstances; in azoospermia, patients deleted in AZFc have about 50% opportunities to obtain sperms through testicular sperm aspiration to conduct ICSI. Detection on Y chromosomal microdeletion to distinguish the deletion mode can provide strong scientific evidences for clinical diagnosis and assisted reproduction.

Intended Use

Y Chromosome Microdeletion Detection Kit (PCR-Capillary Electrophoresis) is an in vitro diagnostic test. The test is used for qualitative detection of genomic DNA samples of human (male) on whole blood in vitro and for detecting whether occuring microdeletion of fragment in azoospermia factor (AZF) region affecting sperm production of Y chromosome. There are 15 sequence tagged sites (STS) detected, including 6 STSs recommended by European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMQN), which are AZFa region (sY84, sY86), AZFb region (sY127, sY134) and AZFc region (sY254, sY255) and must be detected; and 8 STSs which are AZFa region (sY82, sY1064, sY1065, sY88), AZFb region (sY105, sY121, sY1192, sY153), to determine whether the entire fragment is completely missing; as well as heterochromosome tag sY160.

This kit is used for etiological analysis of patients diagnosed with infertility.