[Evaluation of a multiplex PCR kit used for detecting Y chromosome microdeletions].
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/microL; 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.
Park
Mi Young
MY
Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea.
Kang
Hye Min
HM
Hwang
Sang Hyun
SH
Park
Hyun Jun
HJ
Park
Nam Cheol
NC
Choi
Kyung Un
KU
Kim
Hyung Hoi
HH
Chang
Chulhun L
CL
Lee
Eun Yup
EY
D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D004587:Electrophoresis, Agar Gel / Q000379:methods; D005260:Female; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011933:Reagent Kits, Diagnostic; D015203:Reproducibility of Results; D029589:Seminal Plasma Proteins / Q000235:genetics*; D012680:Sensitivity and Specificity; D014646:Varicocele / Q000235:genetics
D011933:Reagent Kits, Diagnostic; D029589:Seminal Plasma Proteins