[Alleles dropout patterns of Y-short tandem repeats in infertile males with Y chromosome microdeletions]

Yi Chuan. 2019 Mar 20;41(3):243-253. doi: 10.16288/j.yczz.18-235.
[Article in Chinese]

Abstract

Y chromosomal short tandem repeat (Y-STR) typing is the most commonly used genetic technique in forensic studies. However, there may be a limit to the application of Y-STR in forensic science as Y-STR loci are subject to loss or variation caused by the higher chromosomal structures' spontaneous mutation rate. Located in the long arm of the Y chromosome, azoospermia factor (AZF) have been shown to participate in spermatogenesis and its deletion could cause infertility. However, little is known about the Y-STR dropout pattern in individuals with Y chromosome microdeletions. In this study, 85 infertile males with Y chromosome interstitial deletion were identified and special Y-STR allele dropout patterns were analyzed by employing a Y-STR Commercial Kit and a Y chromosome Deletion Kit. Results demonstrate that AZF a region deletion are related to DYS439-DYS389I-DYS389II alleles dropout, while AZF b region or c region deletions correlate to DYS448 allele dropout. Null DYS385-DYS392-DYS448 alleles were observed in AZF b+c+d region deletion individuals. While null DYS390-Y-GATA-H4-DYS385-DYS392-DYS448 alleles were observed in AZF a+b+c+d large region deletion individuals. Our data suggest that Y chromosome microdeletions may indicate specific Y-STR locus dropout patterns.

MeSH terms

  • Alleles*
  • Chromosome Deletion
  • Chromosomes, Human, Y / genetics
  • Haplotypes
  • Humans
  • Infertility, Male / genetics*
  • Male
  • Microsatellite Repeats*
  • Mutation Rate
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / genetics*

Supplementary concepts

  • Male sterility due to Y-chromosome deletions