Molecular Genetic Disease Achondroplasia

For hundreds of years dwarfism has been a fascination of society. Historically people with dwarfism were used in circuses and sideshows because people were in awe of their stature and proportions. Dwarfism is most commonly caused by the genetic condition Achondroplasia, which accounts for 70% of all dwarfism cases and occurs in one out of every 25,000 live births (Pauli, 1998). Achondroplasia (ACH) is one of many genetic anomalies which causes the condition dwarfism it is an autosomal dominant condition but in about 80% of cases results sporadically from a G1138A mutation in the transmembrane receptor of the FGFR3 gene which is located on chromosome 4 (Liu et al., 2015). All people with achondroplasia have a single copy of the normal FGFR3 …show more content…
This type of testing presents what seems to be small but still significant health risk to both the fetus and the mother which is why non-invasive testing utilizing circulating fetal DNA are now being developed. Currently accepted non-invasive methods like polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis require a large volume of maternal blood but an alternative method has been tested and formed by Ji Hyae Lim et al. of a combination of Quantitative Fluorescence Polymerase Chain Restriction (QF-PCR) with the restrictive fragment method which can be performed on a small quantity of achondroplasia DNA to detect ACH in maternal plasma. In tests so far QF-PCR has been successful in non invasive ACH diagnosis. Achondroplasia is a Greek word and can be translated to mean “without cartilage”. This partly defines the effects of ACH which creates an inability to convert cartilage into bone particularly in the arms and legs. Evidence supports that FGFR3 protein (produced in the FGFR3 gene) inhibits the proliferation of chondrocytes or the cartilage producing cells which slows down the formation of bone through ossification. This increases the functionality of