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2016 Fiscal Year Final Research Report

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

Research Project

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Project/Area Number 15K20077
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Urology
Research InstitutionKanazawa 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
Keywords無精子症 / 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.

Free Research Field

泌尿器科

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Published: 2018-03-22  

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