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Y chromosome microdeletions in Brazilian fertility clinic patients

J.T. Arruda1, B.M. Bordin1, P.R. Santos1, W.E.J.C. Mesquita1, R.C.P.C. Silva2, M.C.S. Maia2, M.S. Approbato2, R.S. Florêncio2, W.N. Amaral2, M.A. Rocha Filho2 and K.K.V.O. Moura1,3
1Núcleo de Pesquisas Replicon, Universidade Católica de Goiás, Goiânia, GO, Brasil
2Hospital das Clínicas, Universidade Federal de Goiás, Goiânia, GO, Brasil
3Departamento de Biomedicina e Biologia, Universidade Católica de Goiás, Goiânia, GO, Brasil
Corresponding author: J.T. Arruda
E-mail: [email protected]

Genet. Mol. Res. 6 (2): 461-469 (2007)
Received December 22, 2006
Accepted June 05, 2007
Published June 30, 2007

ABSTRACT. Microdeletions in Yq are associated with defects in spermatogenesis, while those in the AZF region are considered critical for germ cell development. We examined microdeletions in the Y chromosomes of patients attended at the Laboratory of Human Reproduction of the Clinical Hospital of the Federal University of Goiás as part of a screening of patients who plan to undergo assisted reproduction. Analysis was made of the AZF region of the Y chromosome in men who had altered spermograms to detect possible microdeletions in Yq. Twenty-three patients with azoospermia and 40 with severe oligozoospermia were analyzed by PCR for the detection of six sequence-tagged sites: sY84 and sY86 for AZFa, sY127 and sY134 for AZFb, and sY254 and sY255 for AZFc. Microdeletions were detected in 28 patients, including 10 azoospermics and 18 severe oligozoospermics. The patients with azoospermia had 43.4% of their microdeletions in the AZFa region, 8.6% in the AZFb region and 17.4% in the AZFc region. In the severe oligozoospermics, 40% were in the AZFa region, 5% in the AZFb region and 5% in the AZFc region. We conclude that microdeletions can be the cause of idiopathic male infertility, supporting conclusions from previous studies.

Key words: Male infertility, AZF, Assisted human reproduction, Y microdeletions


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