Can genetics pin point specifically from which loci in the gene causing the specific problem?...
There is such a wide range of variation for each of the hundred of anomalies from the deletion (VCFS), I am wondering if you can tell me if there is yet new research/finding regarding the specificity of which (part of) genes are involve in one particular thing (in VCFS anomalies). I wonder, do all Fish test comes out the same- for all the VCFS patients? ..yet some has different problems, and ranges in severity.
Variation in expression in genetic syndromes is the rule, not the exception. There are many factors that cause such variation. For most people with VCFS, 40 genes are deleted. However, keep in mind that another copy of each of these 40 genes are present on the second copy of chromosome 22. The genes that are present come in different versions, and it is possible that depending on the version of the gene present, the expression may be different. Another factor is something called epigenetics. This has to do with the molecular structure of the DNA molecule and a process called methylation. Also important is the fact that many genes are regulated by genes elsewhere in the genome. Some of the variation may be related to how genes are interacting. Our Center and others are studying these various mechanisms and we should have answers to all of these issues in the future.
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Dr. Robert Shprintzen, Director
Professor of Otolaryngology
Professor of Pediatrics
VCFS International Center
Upstate Medical University
Syracuse, NY, USA
Center web sight: www.vcfscenter.org
Center email: vcfs@upstate.edu- Report Abuse
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