Absence of constitutional Y chromosome AZF deletions in patients with testicular germ cell tumors.
OBJECTIVE
To investigate the frequency of azoospermia factor (AZF) deletions in Dutch patients with testicular germ cell tumors (TGCTs). Reduced fertility is associated with TGCTs and reduced fertility and TGCTs might share genetic risk factors according to the testicular dysgenesis hypothesis. Up to 8% of infertility and reduced fertility in the general male population can be explained by the presence of constitutional deletions of part of the long arm of the Y chromosome (Yq11), referred to as the AZF region.


METHODS
In 112 patients with TGCT, screening for constitutional deletions in the AZF region was performed by multiplex polymerase chain reaction analysis in DNA extracted from peripheral blood lymphocytes. A set of 24 primer pairs, of which 20 primer pairs are homologous to previously identified and mapped sequenced tag sites within the AZF region were used.


RESULTS
No deletions in the Yq11 region were detected in any of the 112 patients.


CONCLUSIONS
Large Y chromosome microdeletions in the AZF region are not a major contributor to the development of TGCT and TGCT-associated reduced fertility.
Lutke Holzik
M F
MF
Department of Surgical Oncology, Groningen University Medical Center, Groningen, The Netherlands.
Storm
K
K
Sijmons
R H
RH
D'hollander
M
M
Arts
E G J M
EG
Verstraaten
M L
ML
Sleijfer
D T
DT
Hoekstra
H J
HJ
D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000648:ultrastructure*; D003456:Cryptorchidism / Q000235:genetics; D004252:DNA Mutational Analysis; D056426:Genetic Loci; D018237:Germinoma / Q000150:complications / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000209:etiology* / Q000235:genetics; D008214:Lymphocytes / Q000737:chemistry; D008297:Male; D009845:Oligospermia / Q000209:etiology / Q000235:genetics; D016133:Polymerase Chain Reaction; D029589:Seminal Plasma Proteins / Q000235:genetics*; D018239:Seminoma / Q000150:complications / Q000235:genetics; D013736:Testicular Neoplasms / Q000150:complications / Q000235:genetics*
D029589:Seminal Plasma Proteins