Not Surprising At All That Genetic Rearrangement Frequently Found In Sperm

It is time to know that the father's age has had the major role in the creation new (non-familial) genetic disorders. There are unstable regions in the genome.


http://www.eurekalert.org/pub_releases/2007-12/wtsi-msg112807.php This is expected Not UNEXPECTED! There are many, many studies showing that sperm mutations/genetic disorders increase with the man's age Mutant sperm guide clinicians to new diseases Disease, DNA, deletions and duplications in human sperm Research published today in Nature Genetics shows that some rearrangements of the human genome occur more frequently than previously thought. The work is likely to lead to new identification of genes involved in disease and to improve diagnosis of genomic disease. The scientists from the Wellcome Trust Sanger Institute looked at four unstable regions in the genome where rearrangements cause genetic diseases, so-called 'genomic disorders', and found that some of these rearrangements were found in sperm much more frequently than expected.


It has been known since 1955 that older fathers have more genetically damaged offspring!

Dolores Malaspina MD :





"New point mutations in humans are introduced through the male line," says Dolores Malaspina, MD, professor of clinical psychiatry at Columbia University and the New York State Psychiatric Institute. Furthermore, she adds, the number of mutations in sperm increases as men age.



De Novo Point Mutations and Autism
.Arthur L. Beaudet, M.D.The two studies1, 2 greatly strengthen the growing awareness that a substantial fraction of autism is caused by genomic rearrangements. Particularly in the case of deletions, loss-of-function point mutations in genes in these regions are likely to be important as well. Most of these are de novo mutations not present in the parents. The children with identifiable genetic abnormalities are often in the syndromic group, and the sex ratio for these individuals tends to be 1:1, except for X-linked disorders6, 7.De novo point mutations in such genes could explain the advanced paternal age association that has been reported for autism13. There is no evidence, however, that the risk of a de novo CNV is related to the age of either parent.-------------------------------------------------------------------------------------Point MutationA point mutation is a simple change in one base of the gene sequence. This is equivalent to changing one letter in a sentence, such as this example, where we change the 'c' in cat to an 'h':OriginalThe fat cat ate the wee rat.Point Mutation The fat hat ate the wee rat.








.