Achondroplasia Family

Achondroplasia Family

Monday, February 24, 2014

Inheritance of Achondroplasia

How does one acquire this disorder?

Well, Achondroplasia is an autosomal dominant gene. The word,"autosomal", means that the Achondroplasia gene is located in chromosome pairs one through twenty-two. What autosomal also means is that males and females are equally affected in terms of inheritance. Knowing this, children can either acquire this disorder from a parent with achondroplasia, which happens about 20% of the time, or you could possibly inherit the gene from a new mutation in the family from normal parents, which occurs about 80% of the time.


I wonder, what are the possible genotypes of the parents for children with Achondroplasia?

The parents are heterozygous actually, due to the fact that Achondroplasia only needs one dominant allele since is an autosomal dominant gene. If you need more information on autosomal genes click here.

Now, what exactly are the chances of a person with this disease passing the disease on if they are autosomal dominant?

If both parents have the gene, with each pregnancy their is a fifty percent chance to have a child with Achondroplasia, twenty-five percent chance of a non effected child without the genetic disorder, and twenty-five percent chance that the child with inherit one abnormal gene from each parent; this can lead to severe skeletal and structural problems that often result in an early death of the child, usually in the first few days after birth. 


For more information regarding genetics and the inheritance of Achondroplasia, check out these two articles here:

medicinenet.com

healthline.com

1 comment:

  1. Achondroplasia is the prototype and most common of the human chondrodysplasias. Chondrodysplasias are human bone genetic disorders causing a defect in the endochondral ossification at the growth plate (formation of bone from cartilage), resulting in skeletal malformations. Achondroplasia is the most frequent cause of short-limb dwarfism. It occurs in 1 out of every 10,000–30,000 live births. https://www.pediatriconcall.com/articles/genetics/achondroplasia/achondroplasia-introduction#304

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