Genetic cause of azoospermia with small testes - Comprehensive analysis of the X chromosome -

• Project/Area Number: 15K20077
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Urology
• Research Institution: Kanazawa University
• Principal Investigator: Iijima Masashi 金沢大学, 附属病院, 助教 (70749168)
• Research Collaborator: TAJIMA Atsushi
• Project Period (FY): 2015-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: 無精子症 / X染色体 / Ｘ染色体

Outline of Final Research Achievements

A comprehensive microarray analysis of the X chromosome was carried out using DNA derived from peripheral blood lymphocytes of 12 azoospermia patients with testicular volume of 5 ml or less. While covering all chromosomes with a 4 x 180 K microarray, the probes were designed at high density so that the distance between the probes was 661 bp on the X chromosome. We found significant copy number variant in the region containing 35 coding genes (33 increase, 3 decrease). There were 10 regions including 14 coding genes that showed copy number variant in common in more than two cases. It was suggested that these genes may be candidate genes for testicular growth and spermatogenesis.