Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report.
J Reprod Med
; 45(7): 591-4, 2000 Jul.
Article
em En
| MEDLINE
| ID: mdl-10948474
ABSTRACT
BACKGROUND:
The presence of a spermatogenesis locus (gene or gene complex) in the euchromatic region of the long arm of the Y chromosome (Yq11), defined as azoospermia factor on the basis of gross structural rearrangement, was detected. The gene family responsible for different spermatogenetic defects is "deleted in azoospermia" (DAZ). CASE A 34-year-old man had oligozoospermia, and a cytogenetic analysis carried out on peripheral lymphocytes with G banding revealed a 46,X, inv(Y)(p11q11)karyotype. The relation between the chromosomal breakpoint and the DAZ gene was more precisely defined by a fluorescent in situ hybridization technique. We revealed two signals for the DAZ gene, weaker than normal, one on the short arm and the other on the long arm of the Y chromosome, indicating that the breakpoint was located at the DAZ gene level.CONCLUSION:
This is the first report documenting a chromosomal pericentric inversion with disruption in the DAZ gene area. We hope to obtain information on whether the disruption affects a functional zone of the gene and correlates with oligospermia at the chromosomal level.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Oligospermia
/
Cromossomo Y
/
Aberrações Cromossômicas
/
Proteínas de Ligação a RNA
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
J Reprod Med
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Itália