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To investigate the prevalence of Y chromosome polymorphisms in Chinese men and analyze their associations with male infertility and female adverse pregnancy outcomes.
The clinical data of 32,055 Chinese men who underwent karyotype analysis from October 2014 to September 2019 were collected. Fisher’s exact test, chi-square test, or Kruskal–Wallis test was used to analyze the effects of Y chromosome polymorphism on semen parameters, azoospermia factor (AZF) microdeletions, and female adverse pregnancy outcomes.
The incidence of Y chromosome polymorphic variants was 1.19% (381/32,055) in Chinese men. The incidence of non-obstructive azoospermia (NOA) was significantly higher in men with the Yqh- variant than that in men with normal karyotype and other Y chromosome polymorphic variants (p < 0.050). The incidence of AZF microdeletions was significantly different among the normal karyotype and different Y chromosome polymorphic variant groups (p < 0.001). The detection rate of AZF microdeletions was 28.92% (24/83) in the Yqh- group and 2.50% (3/120) in the Y ≤ 21 group. The AZFb + c region was the most common AZF microdeletion (78.57%, 22/28), followed by AZFc microdeletion (7.14%,2/28) in NOA patients with Yqh- variants. There was no significant difference in the distribution of female adverse pregnancy outcomes among the normal karyotype and different Y chromosome polymorphic variant groups (p = 0.528).
Patients with 46,XYqh- variant have a higher incidence of NOA and AZF microdeletions than patients with normal karyotype and other Y chromosome polymorphic variants. Y chromosome polymorphic variants do not affect female adverse pregnancy outcomes.
Alterations in the DNA sequence are generally seen in the general population at >1%, and these alterations can be deletions or insertions. Classically, chromosomal polymorphisms (CPMs) are alterations with no significant phenotypic distinctions. However, few studies have shown that the presence of CPM can lead to congenital disabilities, which can be fatal. These variants in the DNA can happen in the form of single nucleotide polymorphisms (SNPs). The human genome is considered full of SNPs, and they are responsible for causing pathological phenotypes and provide insight into pathogenesis, a therapeutic approach to the pathology. About 100 million SNPs are observed in humans for an average of 300 nucleotides. These polymorphisms are detected by using molecular techniques. These polymorphisms are not just restricted to the coding region. The CPMs are first recognized on the chromosomes through molecular techniques, followed by detection of the polymorphism. The CMPs are generally the SNPs, deletions/duplications, and presence of microsatellite DNAs. Here we have summarized the implications of CMPs in a few congenital disorders and the method of diagnosis.KeywordsChromosomal polymorphismCongenital disordersKaryotypeDNA
