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What is X-linked recessive inheritance?

2 fertility expert(s) answered this question

X-linked recessive inheritance - what is it and how it may affect men?

X-linked recessive inheritance refers to genetic disorders associated with gene mutations on the X chromosome. Men carry only one X chromosome so when they have the mutation, they will be affected. Women have two X chromosomes so if they carry a mutation in only one of those genes, they are generally not affected.

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

We should remember that genes contain distractions for growth and development. Some gene variations or changes may mean that the gene does not work properly or works in a different way that is harmful. We have that information in our chromosomes made up of 23 pairs inherited from our parents, from 1 to 22 are autosomes and the last part is made up of sex chromosomes XX in the case of females and XY in the case of males. If we have a genetic condition that happens when a gene on the X chromosome has variations. This is called x-linked inheritance. An x-linked recessive gene is a gene located on the x chromosome and affects males and females differentially so on autosomal gene is a gene located on the number of chromosomes usually affects males and females in the same way but in this case, we have an x-linked gene that is located on the x or y chromosome and usually affects males and females differently.

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

An example of fertility is the TEX11 gene, which causes male infertility. It’s a gene on the X chromosome, as males only affect that 1 X chromosome; they don’t have a backup X chromosome as females do. It’s like having a memory stick, pen, and hard drive, so females have a memory stick if your hard drive goes, so usually, they’re all right. But in this case, males don’t have that backup. If anything goes on in their X, they get the disease. That’s why males suffer lots of different x-linked diseases, including a few for infertility. Still, there are also more common ones like Duchenne Muscular Dystrophy, which usually only affects males. Because females have got a backup X, and that Duchenne Muscular Dystrophy gene is a huge gene. It’s the biggest gene; it’s 2.5 million letters long, and it’s prone to new deletions and new mutations. 1 in 3 births are new mutations that occurred in the woman’s X chromosome; it’s always been the woman. Unfortunately, males getting this are affected by muscle wasting; they end up in a wheelchair at 12 and are lucky to survive into their 20s. There are new therapies for Duchenne Muscular Dystrophy, but it’s a serious disease. We have to live with this disease because new mutations are occurring all the time in that gene.

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