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

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2 fertility expert(s) answered this question

Answer from: Maria José Mendiola, MD, MSc in Human Genetics, MSc in Science Communication, ObGyn

Gynaecologist, Gynaecologist in Reproductive Medicine & Reproductive Genetics Clínica Monterrico
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Single gene disorders are called spina changes in one particular gene and often have predictable inheritance patterns, for example, over 10 000 human disorders are caused by a change known as salutation in a single gene – just in a single gene. They are known as single gene disorders. The mutated version of the gene responsible for the disorder is known as a mutant or disease aloe but individually single genetic disorders are very rare but as a whole, they affect about just one percent of the population and for example, in case of our fertility, single gene defects can lead to health conditions that can cause fertility problems, for example, we have cystic fibrosis, spinal muscular atrophy, cannabin disease, sickle cell diseases and palestinians just remember that they are very rare but we have to assess particularly every couple in our consultation in our life.

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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