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Abstract

Volume 5, Issue 2 (June 2003) 5, 137–147;

Searching for candidate genes for male infertility

B.N. Truong, E.K. Moses, J.E. Armes, D.J. Venter, H.W.G. Baker

1.Melbourne IVF Centre,
    2.Pregnancy Research Centre, Department of Obstetrics and Gynaecology, Royal Women's Hospital, University of Melbourne, Victoria 3053, Australia
    3.Departments of Pathology and Obstetrics/Gynaecology, University of Melbourne, Victoria 3010, Australia
    4.Murdoch Children's Research Institute, Royal Children's Hospital, Victoria 3052, Australia
    

Advance online publication 1 June 2003

Abstract

Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and provide related information such as gene function, tissue expression, known mutations and single nucleotide polymorphisms (SNPs). Methods and Results: To demonstrate this in silico research, the following male infertility candidate genes were selected: (1) human BOULE, mutations of which may lead to germ cell arrest at the primary spermatocyte stage, (2) mutations of casein kinase 2 alpha genes which may cause globozoospermia, (3) DMR-N9 which is possibly involved in the spermatogenic defect of myotonic dystrophy and (4) several testes expressed genes at or near the breakpoints of a balanced translocation associated with hypospermatogenesis. We indicate how information derived from the human genome databases can be used to confirm these candidate genes may be pathogenic by studying RNA expression in tissue arrays using in situ hybridization and gene sequencing. Conclusion: The paper explains the new approach to discovering genetic causes of male infertility using information about the human genome.
    
    

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Asian Journal of Andrology CN 31-1795/R ISSN 1008-682X  Copyright © 2023  Shanghai Materia Medica, Chinese Academy of Sciences.  All rights reserved.