A New Autosomal Recessive Form of Stickler Syndrome is caused by a Mutation in the COL9A1 Gene Free Essay, Term Paper and Book Report
1-What are the central questions or hypotheses addressed by the article?
Untill this investigation; Stickler Syndrome’s mode of transmission was autosomal dominant exclusively. But after the discovery of a Moroccan family having affected members with this disease, scientists found out that the mode was autosomal recessive. So their hypothesis was: Is COL9A1, associated with collagen types II and XI of the high expression in the human ear indicated by cDNA microarray, responsible for the recessive character of this transmission?
2-What is the background information on this topic, and how did it lead the authors to investigate it?
The investigators based the information on understanding the relation between the collagens found at the site of affected regions in the body and Stickler Syndrome itself. The background data is as follows:
• The previously known mutations resulting in Stickler Syndrome (types 1, 2, & 3) are in collagen types II and XI which are responsible for the autosomal dominant inheritance.
• Stickler syndrome manifestations include opthalmologic......
Word Count: 1925
Page Count: 7.7 (250 words a page / double spaced)
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