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Article: Dwarfism gene under scrutiny.(discovery of genes that cause most cases of dwarfism)(Brief Article)
- Article from:
- Science News
- Article date:
- August 5, 1995
CopyrightCOPYRIGHT 1995 Science Service, Inc. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan. All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)
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Geneticists are finally finding the genes responsible for most cases of dwarfism. Last year, two groups reported that achondroplasia, the most common genetic form of dwarfism, results from a small mutation in the gene that contains the instructions for fibroblast growth factor receptor 3 (FGFR3), a protein needed for skeletal development in the embryo.
They also showed that in almost all cases of achondroplasia, the mutation consists of an alteration of exactly the same nucleotide, one of DNA's basic building blocks.
This nucleotide's mutation rate--how often it spontaneously changes--is the highest ever calculated, notes Clair A. Francomano of the National ...