DE NOVO POINT MUTATIONS and Copy Number Variations CNVs

Tuesday, July 8, 2008

Additionally the risk of autism, epilepsy or schizophrenia also increased in these kids, which led to accidental deaths as well,

Man's Ability to Have Kids is Dependent on His Age



Written by Theresa Maher
Monday, 07 July 2008
MONDAY, July 7, (News Locale) - Contrary to popular perception, a man is not able to have kids anytime he wishes. New research out of France indicates male fertility is also dependent on age and men who delay fatherhood may have a tough time conceiving later on.
It is believed that unlike women, men have no biological clock and can father children throughout their life. In fact it is not uncommon to see celebrities having babies well after they have crossed their 50s.

Now researchers at the Eylau Centre for Assisted Reproduction in Paris have revealed men who delay fatherhood have a less chance of impregnating their partners.

The study of more than 20,000 couples who sought fertility help at the center found men over the age of 35 are almost a third less likely to conceive as compared to their younger counterparts. Furthermore men over the age of 40 had poor quality of sperm, which could lead to frequent miscarriages in their partners. In fact the risk of miscarriage if the father was over the age of 40 was 75 percent.

Researchers believe the DNA in sperm starts to decay with age and this may be the cause of fertility issues in older men.

The details of the study were presented at the European Society of Human Reproduction and Embryology conference.

An earlier study by Danish researchers had revealed kids born to older fathers were more likely to die before they entered adulthood when compared to kids born to younger fathers. This incidence was attributed to the declining quality of sperm due to ageing.

The scientists found that congenital defects like heart and spine problems were the main cause of death in these children.

Additionally the risk of autism, epilepsy or schizophrenia also increased in these kids, which led to accidental deaths as well, the researchers had reported in the European Journal of Epidemiology.

Consumers must be aware that the mother's age has always been associated with pregnancy complications. The above study provides evidence that a father's age may also have a say in conception.

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Sunday, April 15, 2007

The Copy Number Variations are Probably in the Spermatagonia

- Despite its reputation as the most highly heritable of all neuro-psychiatric diseases, autism appears in families with no history of the disorder. A new study led by Michael Wigler and Jonathan Sebat at Cold Spring Harbor Laboratory provides evidence that the sporadic, non-inherited form of autism may be genetically distinct from heritable autism. Published in “Science Express,” these findings may influence future autism research and diagnostic testing.

Using new high resolution array technology to detect mutations, Sebat and colleagues found that spontaneous deletions and duplications of genetic material, so-called copy number variation, were ten times more prevalent in sporadic cases of autism spectrum disorders than in healthy control subjects They found the spontaneous mutations in 14 of 195 people with autism spectrum disorders compared to two of 196 unaffected individuals. The results also implicate the anomalies as primary, rather than just contributory, causes of the disorder in most cases when they are present, according to the researchers.


"Our results show conclusively that these tiny glitches are frequent in autism, occurring in at least ten percent of cases, and primarily in the sporadic form of the disease, which accounts for 90 percent of affected individuals," said study co-author Jonathan Sebat. " But since each mutation is individually rare–few were seen more than once–the results suggest that many different sites in the genome likely contribute to autism. Therefore, although the presentation of various forms of autism may be similar, any combination of variations of 100 or more genes may be responsible.

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