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Researchers pinpoint ‘null’ gene that leads to scoliosis
February 2015
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HOUSTON—Recent research from a team out of Baylor College of Medicine, Fudan University, Peking Union Medical College and Washington University School of Medicine has found that the combination of a “null” gene that produces no useable protein (found on the short arm of one chromosome 16) and a second copy of the same gene that yields too little protein on a second chromosome copy leads to congenital scoliosis, or children born with curved spines. The team studied 161 Han Chinese people born with scoliosis and compared them with 166 Han Chinese without scoliosis. The gene TBX6 was identified as a likely target, and both copies of the gene play a role in this disorder. Further genomic studies revealed that a common haplotype, a cluster of closely mapping single-nucleotide polymorphisms that occurs in 44 percent of the Han Chinese population, was also found in scoliosis patients.
 
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