Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure.
OBJECTIVE
To develop a simple and rapid protocol for detecting deletions of the Y chromosome and to evaluate the feasibility of gene-based screening in men with spermatogenic failure.


METHODS
Prospective case study.


METHODS
University-based reproductive clinics and genetics laboratory.


METHODS
Two hundred two infertile men presenting with severe oligozoospermia and nonobstructive azoospermia.


METHODS
Fifteen gene-specific primers were used to detect deletions of Y chromosome genes in men with spermatogenic failure. A multiplex polymerase chain reaction amplification system was developed to facilitate rapid screening. Another 24 markers for sequence-tagged sites (STS) were used to ensure the adequacy of gene-based screening.


METHODS
Detection of deletions of Y chromosome genes.


RESULTS
Of 180 patients evaluated, 19 (10.6%) had deletions of one or more genes, including DFFRY, DBY, RBM1, DAZ, CDY1, and BPY2. A second round of STS-based screenings did not show an increase in the deletion rate but more clearly defined the extent of deletion in 14 of the 19 patients. In most patients, deletions detected by gene-based screening were similar to those detected by STS markers.


CONCLUSIONS
Gene-based screening with multiplex polymerase chain reaction is a rational alternative for detecting deletions of Y chromosome genes in infertile men.
Lin
Yung-Ming
YM
Department of Urology, National Cheng Kung University, Tainan, Taiwan
Lin
Ying-Hung
YH
Teng
Yen-Ni
YN
Hsu
Chao-Chin
CC
Shinn-Nan Lin
Johnny
J
Kuo
Pao-Lin
PL
D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000209:etiology; D008297:Male; D009845:Oligospermia / Q000150:complications / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011446:Prospective Studies; D016324:Sequence Tagged Sites; D013624:Taiwan