Research Article

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11/24/2009
Androgen receptor; AR gene; Male infertility; Spermatogenesis; Teratozoospermia

The androgen receptor (AR) is a protein encoded by the AR gene, which when mutated may affect spermatogenesis, the process in which spermatozoa are produced; thus, AR mutations could lead to male infertility. We examined exon 1 of the AR gene in men with idiopathic infertility. Blood or semen samples from 111 infertile, oligozoospermic (N = 31), ... more

W.E.J.C. Mesquita; M.S. Approbato; K.K.V.O. Moura; R.S.A. Jesuíno
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Assisted human reproduction; AZF; Male infertility; Y microdeletions

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 ... more

J.T. Arruda; B.M. Bordin; P.R. Santos; W.E.J.C. Mesquita; R.C.P.C. Silva; M.C.S. Maia; M.S. Approbato; R.S. Florêncio; W.N. Amaral; M.A.Rocha Filho; K.K.V.O. Moura
09/08/2009
GSTM1; GSTT1; Male infertility; Xenobiotics

Male infertility is a heterogeneous disorder, with vari­ous genetic and environmental factors that contribute to the impairment of spermatogenesis. Genetic causes are responsible for 60% of cases of idiopathic infertility. Polymorphisms of genes that encode detoxi­fying enzymes of phase II drug metabolism can modify their expres­sion or function, affecting the biotransformation of toxic ... more

A.C.F. Finotti; R.C.P.Costa e Silva; B.M. Bordin; C.T.X. Silva; K.K.V.O. Moura
08/04/2009
Azoospermia; Chromosomal abnormality; Male infertility; Severe oligozoospermia; Y chromosome microdeletion

Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complete spermatogenesis. We examined the ... more

G.G. Ceylan; C. Ceylan; H. Elyas
07/08/2008
Male infertility; vertical transmission; Y chromosome

Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male ... more

R.G. Rodovalho; J.T. Arruda; K.K.V.O. Moura
06/29/2010
AZF regions; Male infertility; STS markers; Y-chromosome microdeletion

Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based ... more

L.K. Pandey; S. Pandey; J. Gupta; A.K. Saxena
04/06/2010
Familial Mediterranean fever; Male infertility; Mediterranean fever gene

Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency of 6 of the most common Mediterranean fever gene mutations, ... more

E.O. Etem; D. Erol; Y. Huseyin; A. Arslan
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Androgen receptor; Chromosome X; Exon 1; Exon 4; Male infertility

The androgen receptor is encoded by a single-copy gene located in the long arm of the X chromosome (Xq11-12); it consists of eight exons and encodes an intracellular transcription factor that belongs to the steroid/nuclear receptor superfamily. Disturbances in the function of the androgen receptor can lead to several forms of male pseudohermaphroditism, such as androgen insensitivity syndrome ... more

C.O.A. Melo; A.R. Danin; D.M. Silva; J.A. Tacon; K.K.V.O. Moura; E.O.A. Costa; A.D. da Cruz
12/11/2013
chromosome; Klinefelter’s syndrome; Male infertility; Preimplantation genetic diagnosis; Prenatal diagnosis

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping ... more

Q. Quan; T.J. Li; X.P. Ding; J. Wei; L.X. Li; L. Fu
12/06/2012
Haplotype; Male infertility; Single nucleotide polymorphism; UBE2B

The ubiquitin-conjugating enzyme 2B gene (UBE2B) is involved in the regular and symmetric organization of the fibrous sheath of sperm flagella. This study aimed to examine the relationship between single nucleotide polymorphisms (SNPs) in UBE2B and infertility in Northeast Chinese men. We carried out a polymerase chain reaction-restriction fragment length polymorphism ... more

Y. Hu; W. Wen; J.G. Yu; S.Q. Qu; S.S. Wang; J. Liu; B.S. Li; Y. Luo

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