Creation of a DNA bank from patients with infertility: a powerful resource for advancing the biology of reproduction


      A growing body of data indicates that complex genetic variations may significantly impact fertility. Efforts to explore the nature of this family of multifactorial disorders are restricted by a lack of biologic samples obtained from individuals with known reproductive histories. An infertility-specific human DNA repository was created to help empower investigation in these areas.



      Materials and Methods

      DNA was isolated from peripheral lymphocytes, discarded granulosa cells, or spermatozoa using a high-throughput automated liquid handling instrument. Comprehensive reproductive histories, treatment, and outcome data were transferred from a clinical electronic medical record into a custom research database using study ID numbers in order to maintain subject identity. DNA quantity and integrity were characterized using UV spectroscopy and gel electrophoresis. Samples were aliquoted into an average of 10 tubes per sample and are maintained in freezers. The DNA was collected under IRB approval.


      A total of 14,015 DNA samples have been collected from 4,652 infertile couples, 523 oocyte donors, and 378 sperm donors. The mean quantity of DNA from each sample was 97 ± 65 μg. Methodologies of successful DNA analysis include next-generation targeted, exome, and whole genome sequencing, high-throughput TaqMan allelic discrimination, and genome-wide SNP microarray. Examples of studies already in progress or completed include the evaluation of association between p53 polymorphisms and IVF outcome, cohesin gene polymorphisms and risk of oocyte aneuploidy, and KATNAL gene polymorphisms and azoospermia.


      This large fully functional repository of DNA from infertile patients has demonstrated extensive performance capabilities with a variety of methodologies. The DNA bank provides a powerful resource for this research team as well as for potential collaborators that can now be used to investigate new hypotheses regarding the genetic causes of human infertility.