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What does it mean if you have an autosomal dominant gene mutation?

3 fertility expert(s) answered this question

Autosomal dominant gene mutation - how does it work?

Autosomal dominant inheritance is a way a genetic disease or trait can be passed down from parent to offspring. Only one copy of a mutated gene from one parent is enough to cause the genetic condition. This means a parent with the mutated gene has a 50% chance to pass that gene to their offspring.

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Answer from the fertility expert:
Glykeria Samolada, EuR Genetic Counsellor

Autosomal dominant describes the way some genetic changes are or can be inherited. Autosomal means the change is in an autosome chromosomes 1-22 or to a non-sex chromosome dominant means that the features or symptoms can be observed when a single copy of its chromosomes or gene is affected. You need only one mutated gene to be affected by this type of disorder. A person with an autosomal dominant disorder, let’s say the father, has a 50% chance of having an affected child with one mutated, gene dominant team and a 50% chance of having an unaffected child with two normal gene recessivity. Achondroplasia and Huntington disease are examples of autosomal dominant disorder.

Answer from the fertility expert:
Maria José Mendiola, Gynaecologist in Reproductive Medicine & Reproductive Genetics, Clínica Monterrico

Autosomal inheritance of a genes means that the gene is located on one of the autosomes and this means that males and females are equally likely to inherit the gene dominant means that a single copy of the gene gives a particular trait, for example, such as brown eyes instead of green eyes when a parent has a dominant gene, there is 50 chance that any child they have will also have the trait.

Answer from the fertility expert:
Douglas Lester, Co-Founder & Chief Scientific Officer, Fertility Genomics

If you’ve got an autosomal dominant mutation, it means that 50% of your offspring will, on average, be affected. You’ve got a 50/50 chance of passing the bad chromosome or the good chromosome. You’re much more likely to see that that has run in the family. As I said before, if it’s male infertility, you would have to go down the female line and vice versa.

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