Abstract
Our aim was to apply DNA chip technology as a diagnostic tool in infertility research and clinics. Six loci, including a sex-determining region on the Y chromosome and five sequence-tagged sites in azoospermia-factor regions were investigated in infertile male patients. Our method produced a sensitive signal, which showed the presence or absence of the STS regions on the Y chromosome. The results from 93 patients with non- obstructive azoospermia, oligoathenoteratozoospermia, or oligozoospermia were identical when analyzed with either the DNA chip technique or conventional PCR-gel electrophoresis. We have demonstrated its application in the molecular diagnosis of male infertility. This system provides an economic and high-throughput method for detecting the deletion of genomic DNA sequences of large groups of infertile patients, and a completely new approach to male infertility screening. The application of DNA chip technology to identify Yq deletions can also facilitate our understanding of male infertility.
Highlights
Y-chromosomal deletions represent the most frequent genetic alterations in infertile men (Chandley and Cooke, 1994)
Because the use of intracytoplasmic sperm injection (ICSI) and other related techniques has explosively increased the pregnancy rate of male infertility patients in in vitro fertilization (IVF) clinics, it is important to screen for possible genetic defects that can be passed to the generation
Screening for microdeletions in azoospermia factors (AZF) a, b, or c is routinely performed in major andrology and infertility centers
Summary
Y-chromosomal deletions represent the most frequent genetic alterations in infertile men (Chandley and Cooke, 1994). The frequency of deletions on the long arm of the Y chromosome (Yq) in infertile male patients varies from 1% to 51% depending on patient selection criteria (van der Ven et al, 1997; Foresta et al, 1998). A genetic diagnostic method for Y-chromosome microdeletions associated with male infertility has been developed on the basis of conventional polymerase chain reaction (PCR) and standard gel electrophoresis methods (Maurer and Simoni, 2000). Med. Vol 36(2), 179- 184, 2004 developed a DNA chip technique to screen for Yq microdeletions in infertile male patients. Vol 36(2), 179- 184, 2004 developed a DNA chip technique to screen for Yq microdeletions in infertile male patients This newly developed method can allow high-throughput screening of large groups of infertile patients in infertility clinics, compared to conventional PCR-gel electrophoresis method (Figure 1)
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