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Table 1 Diagnostic SNV markers for analyses of single AZFb-c amplicon deletions according to references [13,14,15]

From: Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature

AZF region in Yq11 AZF amplicon Amplicon diagnostic SNV sites (A or B allele) GenBank accession number Diagnostic restriction enzyme Position in Y-Chr.
NC_000024.10,GRch38.p7
WALBAE* BRA 1* GI 2*
AZFb-c b2 b2_AZFc-SFV B BV686548 Mnl I 22.512.862–22.513.511
AZFb-c g1 g1_AZFc-SFV B BV686551 BsmA I 22.968.940–22.968.441
AZFb-c g1 g1_BPY2-1_SNV B BV012732 EcoRV 23.004.292–23.004.757
AZFb-c r1 DAZ-SNV_II A G73163 Mbo I 23.169.401–23.170.051
AZFb-c r2 DAZ -SNV_III A G63907 Taq I 23.230.522–23.230.822
AZFb-c r2 DAZ-SNV_IV A G63908 Alu I 23.283.265–23.283.923
AZFb-c gr1 Gr_AZFc-SFV A BV686554 SnaB I 23.414.449–23.414.888
AZFb-c b3 b3_AZFc-SFV B BV686549 Bln I 23.693.459–23.693.968
AZFc yel1 Goly_SNV_I B BV012731 Hha I 24.209.050–24.209.580 + + +
AZFc g2 g2_AZFc-SFV B BV686552 Tsp451 24.600.115–24.600.606 + + +
  1. *Azoospermic men with “classical” genomic extension of AZFb deletion [8]. They display deletion of all AZFb-AZFc overlapping amplicons as expected after P5/proximal P1.2