Evaluation of a Multiplex PCR Kit Used for Detecting Y Chromosome Microdeletions.
10.3343/kjlm.2010.30.4.432
- Author:
Mi Young PARK
1
;
Hye Min KANG
;
Sang Hyun HWANG
;
Hyun Jun PARK
;
Nam Cheol PARK
;
Kyung Un CHOI
;
Hyung Hoi KIM
;
Chulhun L CHANG
;
Eun Yup LEE
Author Information
1. Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea. kwanlee@dongguk.edu
- Publication Type:Original Article ; English Abstract ; Evaluation Studies ; Research Support, Non-U.S. Gov't
- Keywords:
Infertility;
Y chromosome;
Azoospermic factor;
Microdeletion
- MeSH:
Azoospermia/genetics;
*Chromosome Deletion;
*Chromosomes, Human, Y;
Electrophoresis, Agar Gel/methods;
Female;
Humans;
Infertility, Male/genetics;
Male;
Oligospermia/genetics;
Polymerase Chain Reaction/*methods;
Reagent Kits, Diagnostic;
Reproducibility of Results;
Seminal Plasma Proteins/*genetics;
Sensitivity and Specificity;
Varicocele/genetics
- From:The Korean Journal of Laboratory Medicine
2010;30(4):432-439
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
BACKGROUND: In addition to Klinefelter's syndrome, microdeletion of Yq is the most common genetic cause of male infertility; 15% of azoospermic or 5-10% of oligozoospermic males have Yq deletions. We evaluated a Yq microdeletion kit (LG Life Sciences, Korea) for identifying microdeletions in the azoospermic factor (AZF) regions of the Yq. METHODS: The kit was designed to amplify 3 regions of the AZF gene (AZFa, AZFb, and AZFc) using 15 sequence-tagged sites. We evaluated the preclinical performance of the kit. For clinical validation, 58 patients including 25 idiopathic azoospermic or oligozoospermic patients were examined. RESULTS: We observed clear bands on electrophoresis of DNA, up to a DNA concentration of 3.12 ng/microliter; the known microdeletion regions of all 6 reference cell-lines (Coriell, USA) were accurately detected and no false positive/negative results showed with normal female (n=11) and fertile male (n=15) specimens. This kit could identify the same microdeletions in the common regions, similar to another commercial kit. Among the 58 male infertile patients, 7 (12.1%) had microdeletions of the Yq. Among the idiopathic azoospermic (n=22) and oligozoospermic (n=3) patients, 3 (12.0%) had microdeletions. Further, 2 of 21 varicocele patients (9.5%), 1 of 4 patients with testicular failure, and 1 patient with a 45,X/46,XY mosaic had microdeletions. CONCLUSIONS: The kit was effective for detecting microdeletions of the Yq. We identified microdeletions in 12% of the infertile patients. This Y chromosome microdeletion detection kit is useful for screening Yq microdeletions in infertile patients.
