• PMID: 12009341
• Gene Name: DDX3Y
• Condition: Infertility
• Association: Of 180 patients evaluated, 19 (10.6%) had deletions of one or more genes, including DFFRY, DBY, RBM1, DAZ, CDY1, and BPY2
• Mutation: 47,XXY karyotype, inv (11)(p12q23.3), Deltions in DBY, DFFRY, RBM1, DAZ, BPY2, CDY1
• Population size: 302
• Population details: 302 (202 infertile patients (21 had 47,XXY karyotype, 1 inv (11)(p12q23.3), 60 had severe oligozoospermia, 120 had nonobstructive azoospermia, 28 had hypospermatogenesis, 24 had maturation arrest, 32 had the Sertoli cell–only syndrome), 100 controls)
• Age: Patients ( 24–37 years), controls ( 22–41 years)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DFFRY, RBM1, DAZ, BPY2, CDY1
• Other associated phenotypes: 47,XXY karyotype, 1 inv (11)(p12q23.3), oligozoospermia, nonobstructive azoospermia, hypospermatogenesis, maturation arrest, Sertoli cell–only syndrome

Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure

Lin YM, Lin YH, Teng YN, Hsu CC, Shinn-Nan Lin J, Kuo PL.

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. DESIGN: Prospective case study. SETTING: University-based reproductive clinics and genetics laboratory. PATIENT(S): Two hundred two infertile men presenting with severe oligozoospermia and nonobstructive azoospermia. INTERVENTION(S): 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. MAIN OUTCOME MEASURE(S): Detection of deletions of Y chromosome genes. RESULT(S): 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. CONCLUSION(S): Gene-based screening with multiplex polymerase chain reaction is a rational alternative for detecting deletions of Y chromosome genes in infertile men. FAU - Lin, Yung-Ming AU - Lin YM AD - Department of Urology, National Cheng Kung University, Tainan, Taiwan FAU - Lin, Ying-Hung AU - Lin YH FAU - Teng, Yen-Ni AU - Teng YN FAU - Hsu, Chao-Chin AU - Hsu CC FAU - Shinn-Nan Lin, Johnny AU - Shinn-Nan Lin J