Exp Mol Med.  2004 Apr;36(2):179-184.

Application of DNA chip techniques for Yq microdeletion analysis in infertile males

• Lee S
• Joo HS
• Lee SH
• Park JE
• Kim JM
• Hwang JH
• Cho KS
• Hwang SY

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.

Keyword

DNA chip; male infertility; microdeletion; molecular diagnosis; STS

MeSH Terms

Chromosome Deletion
Chromosomes, Human, Y/*genetics
DNA Mutational Analysis/methods
Electrophoresis, Agar Gel
Female
Humans
Infertility, Male/*diagnosis/*genetics
Male
Oligonucleotide Array Sequence Analysis/*methods
Polymerase Chain Reaction
Predictive Value of Tests
Research Support, Non-U.S. Gov't
Seminal Plasma Proteins/*genetics
Sensitivity and Specificity
Sequence Tagged Sites
*Sex Chromosome Aberrations