• PMID: 17296183
• Gene Name: DDX3Y
• Condition: Infertility
• Association: 41 infertile patients with Y deletions were identified
• PMID: 17296183
• Gene Name: DBY
• Condition: Male infertility
• Association: 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
• Population size: 839
• Population details: 839 (627 infertile men, 212 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: USP9Y, DBY, SMCY, RBM1, and DAZ
• Other associated phenotypes: Male infertility

A simplified gene-specific screen for Y chromosome deletions in infertile men

Teng YN, Lin YH, Tsai YC, Hsu CC, Kuo PL, Lin YM.

OBJECTIVE: To test the diagnostic efficiency of a gene-specific, five-marker screening strategy for the detection of Y chromosome deletions. DESIGN: Prospective case study. SETTING: University genetics laboratory and reproductive clinics. PATIENT(S): Six hundred twenty-seven infertile men and 212 fertile men. INTERVENTION(S): 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. MAIN OUTCOME MEASURE(S): Deletion status of Y chromosome genes or sequence-tagged sites. RESULT(S): 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. CONCLUSION(S): 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. FAU - Teng, Yen-Ni AU - Teng YN AD - Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan, Taiwan. FAU - Lin, Ying-Hung AU - Lin YH FAU - Tsai, Yung-Chieh AU - Tsai YC FAU - Hsu, Chao-Chin AU - Hsu CC FAU - Kuo, Pao-Lin AU - Kuo PL