Short-rib Polydactic Syndrome (SPS) is a disorder where babies are born with an abnormally small ribcage and - consequently - poorly developed and dysfunctional lungs. Needless to say, babies born with this disorder do not have a very high chance of survival. Recently, following a 12 year extensive search, scientists have located a gene which codes for this tragic disease. They did this by tracing the phenotype back to the genotype, and found that parents who had lost their children to SPS were carrying the gene. However, this gene is not alone in being responsible for SPS, and scientists are currently trying to uncover other pieces to the puzzle.
1 out of 300 people are estimated to be carrying the gene for SPS, but both parents must be affected for the child to have the disorder (autosomal recessive). Prior to this research, parents could not be informed if their child was positive for SPS until the later stages of pregnancy. Now, however, diagnosis of the condition can be done in less than 12 weeks. Furthermore, parents requiring IVF (in vitro fertilisation) will be able to select gametes that do not have the disease and produce healthy, breathing children. The process these scientists used to find this mutation is a good example of an association-with-trait approach; which can be used to isolate genes responsible for other diseases in humans.
University of California - Los Angeles (2009, April 10). Gene Linked To Deadly Disorder In Newborns Identified. ScienceDaily. Retrieved May 25, 2009, from http://www.sciencedaily.com /releases/2009/04/090401134413.htm
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