A simplified gene-specific screen for Y chromosome deletions in infertile men.
OBJECTIVE
To test the diagnostic efficiency of a gene-specific, five-marker screening strategy for the detection of Y chromosome deletions.


METHODS
Prospective case study.


METHODS
University genetics laboratory and reproductive clinics.


METHODS
Six hundred twenty-seven infertile men and 212 fertile men.


METHODS
Peripheral blood samples were screened for Y chromosome deletions in a triple-blind fashion using three protocols: protocol I consisted of five gene-specific markers, including USP9Y, DBY, SMCY, RBM1, and DAZ; protocol II included 14 gene-specific markers; and protocol III consisted of six sequence-tagged sites (STSs) markers recommended by EAA/EMQN.


METHODS
Deletion status of Y chromosome genes or sequence-tagged sites.


RESULTS
Protocols I and II identified the same 41 infertile patients with Y deletions. Protocol III identified 38 infertile patients with Y deletions, and all 38 patients were also identified by protocols I and II. One patient with isolated USP9Y deletion and two patients with isolated DBY deletions, as detected by protocols I and II, could not be identified by protocol III.


CONCLUSIONS
We observed mostly consistent results between our protocols and the EAA/EMQN protocol. This gene-specific, five-marker screening panel provides the same diagnostic efficiency as the EAA/EMQN protocol and may be considered an alternative to the EAA/EMQN protocol.
Teng
Yen-Ni
YN
Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan, Taiwan.
Lin
Ying-Hung
YH
Tsai
Yung-Chieh
YC
Hsu
Chao-Chin
CC
Kuo
Pao-Lin
PL
Lin
Yung-Ming
YM
D000328:Adult; D002874:Chromosome Mapping; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D005298:Fertility / Q000235:genetics; D005784:Gene Amplification; D056426:Genetic Loci; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics; D012016:Reference Values; D029589:Seminal Plasma Proteins / Q000235:genetics; D017384:Sequence Deletion
C095668:DAZ1 protein, human; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins