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Achondroplasia deseaseGene mutation

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achondroplasia

Achondroplasia is an inherited autosomal dominant condition that causes diminished growth in the long bones of the legs, leading to dwarfism. Several years ago, the gene for achondroplasia was identified and cloned. If two people with achondroplasia marry, and each of them is heterozygous for achondroplasia (has one of two possible copies of the gene), chances are that two of every four children that they have will also be heterozygous and dwarfs. On average, one child in every four born to the couple will not inherit the achondroplasia gene and will be of average height, and one child in four will be homozygous for the gene. Homozygosity for this gene is lethal, and these children usually die in infancy.

Achondroplasia pertama kali ditemukan oleh Parrot (1878). Angka kejadian kelainan ini adalah 1/25.000 kelahiran.

Achondroplasia merupakan Penyakit yang diturunkan secara autosom dominan.

Aa x AaAA = Achondroplasia (LETAL)2Aa = Achondroplasiaaa = Normal

mutasi

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Mutasi pada Organisme multiseluler : • Mutasi Germinal• Mutasi Somatis