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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