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What chromosome carries the dwarfism gene

health advisory Hospital Diseases 2007-11-12 20:37:44

I'm doing a essay 4 science and i need to know what chromosome carries the dwarfism gene

Answer:

it depends because over 200 conditions can cause dwarfism, but the most common is 'achondroplasia''which is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene (FGFR3) which is on chromosome 4

People with achondroplasia have one normal copy of the fibroblast growth factor receptor 3 gene and one mutant copy. Two copies of the mutant gene are invariably fatal before, or shortly after birth. Only one copy of the gene needs to be present for the disorder to occur. Therefore, a person with achondroplasia has a 50% chance of passing on the gene to their offspring, meaning that there will be a 50% chance that each child will have achondroplasia. Since two copies(Homozygous) are fatal, if two people with achondroplasia have a child, there is a 25% chance of the child dying shortly after birth, a 50% chance the child will have achondroplasia, and a 25% chance the child will have a normal phenotype. However, in 3 out of 4 cases, people with achondroplasia are born to parents who don't have the condition. This is the result of a new mutation.

other types of dwarfism are

Hypochondroplasia (also gene 3-chrom 4)

Spondyloepiphyseal Dysplasia- caused by mutation in the COL2A1 gene- chromosome 12

Diastrophic Dysplasia-caused by mutation in the SLC26A2 gene which i think is on chrom 5- i'd check that though!

good luck.


id best search this one on the internet. but otherwise i'll tell you. through my research as a doctor in genetics, mutations in the FGFR3 gene is what causes dwarfism

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