Study On The Relationship Between Y Chromosome Microdeletions And Male Infertility

Objectives Y chromosome microdeletions is the second genetics for male infertility, and it hasbecome a common routine genetic examination for patients with azoospermia and severeoligozoospermic. Classical AZF deletions are well known to be associated withspermatogenetic failure and male infertility. The clinic testing is usually focused on AZFclassical deletions. However, the roles of partial AZFc deletions or duplications with highincidence for male infertility still remain inconclusive.This study aim is to establish an accurate multiplex quantitative fluorescent PCRamplification system for detection of Y chromosome microdeletions, such as typicalmissing, partial deletion, copying and sex chromosome abnormalities can be detectedsimultaneously using this system. The stability of the system was verified by detectingthe actual clinical samples. It will provide a theoretical basis for clinical diagnosis andtreatment that explores the clinical relevance of the Y-chromosomal microdeletionsespecially partial AZFc deletions or duplications with male infertility.Methods Firstly, determining the target types of microdeletions and choosing suitablesites; Secondly, the PCR system was established and optimized; Thirdly,393azoospermicand severe oligozoospermic patients and200fertile controls were screened with this assay;Finally, draw relevant conclusions through data analysis.Results The30-plex PCR amplification system was established for detection AZFmicrodeletions in one single test.54XXY,2XXY,46classical deletions,76partial AZFcdeletions and duplications identified in infertile group and36partial AZFc deletions orduplications in fertile group were found.Conclusions1The constructed system has high stability and accuracy and typical Ychromosome deletions, partial deletion, partial replication and Klinefelter syndrome andother chromosomal abnormalities can be simultaneously detected using this system. It isconvenience for clinical testing.2AZF region deletions and chromosomal anomalies didnot find through the clinical cases and control samples detected.3AZFc duplications isrelated with spermatogenetic failure; The incidence of AZF classical deletionsare performing as expected; There was not statistically significant for partial deletionbetween in fertile and infertile population.