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City team in gene success
RESEARCHERS at Shanghai Jiao Tong University's Bio-X center have discovered a mutation in a gene that causes shortness of the fingers and toes, characterized by stunted or missing finger bones.
Their findings have been published in the scientific journal Nature.
The disease that causes abnormal growth of fingers or toes and how it develops have long puzzled scientists.
The university team found three large families suffering from the disease in mountainous areas of Guizhou and Hunan Provinces in 1999. Using them as the basis for their study, researchers found abnormalities of the IHH gene.
"The research has identified the molecular mechanism of this rare disease which may help doctors find a possible treatment for it," said researcher Ma Gang.
It is thought the team's findings could be used in prenatal checks, allowing early treatment before babies are born.
The research has also identified the IHH gene's important function in fingers for the first time.
Their findings have been published in the scientific journal Nature.
The disease that causes abnormal growth of fingers or toes and how it develops have long puzzled scientists.
The university team found three large families suffering from the disease in mountainous areas of Guizhou and Hunan Provinces in 1999. Using them as the basis for their study, researchers found abnormalities of the IHH gene.
"The research has identified the molecular mechanism of this rare disease which may help doctors find a possible treatment for it," said researcher Ma Gang.
It is thought the team's findings could be used in prenatal checks, allowing early treatment before babies are born.
The research has also identified the IHH gene's important function in fingers for the first time.
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