Multiplex ligation-dependent probe amplification for detecting AZF microdeletions on the Y chromosome in infertile men with azoospermia or severe oligozoospermia.
- Author:
Yu JIANG
1
;
Wen-Bo WANG
;
Qi-Wei GUO
;
Yan-Wei SHA
;
Hong-Gen OUYANG
;
Yu-Lin ZHOU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Azoospermia; genetics; Case-Control Studies; Chromosome Deletion; Chromosomes, Human, Y; genetics; DNA Probes; Genetic Loci; Humans; Infertility, Male; Male; Nucleic Acid Amplification Techniques; methods; Oligospermia; genetics; Polymerase Chain Reaction; methods; Seminal Plasma Proteins; genetics; Sequence Tagged Sites; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development; genetics; Young Adult
- From: National Journal of Andrology 2012;18(2):115-121
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the possibility of applying multiplex ligation-dependent probe amplification (MLPA) to the detection of azoospermia factor (AZF) microdeletion on the Y chromosome in infertile men with azoospermia or severe oligozoospermia.
METHODSDNA samples were obtained from 147 azoospermia or severe oligozoospermia patients and 154 normal controls. After denatured at 95 degrees C, the samples were hybridized to the specific probes designed for the AZF region. With the ligase, the hybrid products were amplified by a pair of universal primers labeled with FAM fluorescence, and then separated by capillary electrophoresis for data analysis. Meanwhile all the samples were subjected to multiplex-PCR (mPCR) analysis for sequence-tagged sites (STS) in the AZF region.
RESULTSSTS deletion was detected in 22 (15.0%) of the 147 patients but not in the normal controls. By MLPA, 40 (27.2%) of the patients were found with specific probe omission in the AZF region, as compared with 20 cases in the control group.
CONCLUSIONCompared with mPCR, MLPA has a better sensitivity in detecting AZF microdeletions, and it provides more precise genetic information on the AZF regions, which may contribute to in-depth exploration into the etiological mechanism of impaired spermatogenesis.
