• PMID: 16538008
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study shows that multiplex PCR system with electrophoresis based on microchip device is convenient for analysis of Y chromosome anomalies
• Mutation: Deletion in Y chromosome
• Population size: 98
• Population details: 50 fertile, 48 infertile
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SRY, AMELY, DBY, RBMY
• Other associated phenotypes: Oligozoospermia, Azoospermia

A rapid and simple system of detecting deletions on the Y chromosome related with male infertility using multiplex PCR

Umeno M, Shinka T, Sato Y, Yang XJ, Baba Y, Iwamoto T, Nakahori Y.

Around 10% of males with idiopathic azoospermia or oligozoospermia, which are important causes of male infertility, have partial deletions on the long arm of the Y chromosome. To develop a rapid and accurate detection system for screening major Y deletions found in infertile men, we developed a multiplex PCR system that can simultaneously amplify five loci on the Y chromosome, SRY, AMELY, DBY, RBMY, DAZ and one locus on the X chromosome, AMELX. The size of the PCR products was designed to increase gradually from the distal Yp to the distal Yq. Our system could detect deletions of three major candidate regions for the azoospermic factor, AZFa, AZFb and AZFc on the Y chromosome together with sex. The gradual increase in the size of the PCR products was convenient for imaging the location of deletions on the Y chromosome. Moreover, the multiplex PCR system was combined with microchip-based electrophoresis, and the PCR products derived from each locus were separated within 4 min. Our system is useful for screening Y chromosomes bearing the structural anomalies including three major AZF deletions found among azoospermic or oligozoospermic males. FAU - Umeno, Mayumi AU - Umeno M AD - Department of Human Genetics and Public Health, Institute of Health Biosciences, The University of Tokushima Graduate School, Japan. FAU - Shinka, Toshikatsu AU - Shinka T FAU - Sato, Youichi AU - Sato Y FAU - Yang, Xin-Jun AU - Yang XJ FAU - Baba, Yoshinobu AU - Baba Y FAU - Iwamoto, Teruaki AU - Iwamoto T