What are single gene disorders and how can they affect my fertility?

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Answer from: Douglas Lester, PhD, MSc, BSc (Hons)

Geneticist, Co-Founder & Chief Scientific Officer Fertility Genomics
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Since life on Earth arrived, DNA mutates, most mutations are deleterious, and the organism will become extinct. However, there are also advantageous mutations, which drive evolution, which has never stopped. There are many different disruptions to the lettering of a gene or genes that can lead to infertility. The most common change or variant is when one letter in a gene has been changed to another letter. For example, T can lead to catastrophic changes to the sperm or ovum, protein shape, or function. For example, let’s suppose any of the sperm proteins known as catspers are altered. In that case, the motility of the sperm is severely compromised, leading to continual IVF failure despite this sperm appearing to swim normally during the microscope.

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How can a single gene disorder affect my fertility?

Single-gene disorders like sickle cell anemia, cystic fibrosis, Tay-Sachs and hemochromatosis are, as the name suggests, caused by a single gene. However, a few different mutations can result in the same disease but display various degrees of severity and phenotype. How do such genetic diseases affect your fertility?

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