After comparing 500,000 snippets of human DNA, scientists at the University of Bonn have found that people with cleft lip and palate are frequently found to have a genetic variant on chromosome 8, which may be linked with the disease.
Cleft lips and palates are among the most frequent innate abnormalities in children and is usually characterised by a gap remaining between lip, jaw and sometimes the palate, because different tissue processes of the face and mouth area do not fuse together or do so insufficiently.
AdvertisementWhile both environmental influences affecting the child in the womb and genetic factors contribute to the deformity, the new study has claimed that genes play a major role in the formation of clefts.
In the study, the scientists examined the DNA of 460 persons with clefts, analysed more than 500,000 items of information from their DNA, and compared them with the genetic snippets of a control group.
And then a specific area in the human genome caught the scientists' attention.
"This was a point on the long arm of chromosome 8, where the cleft group conspicuously often had a variant, far more frequently than people who had no abnormality," Nature magazine quoted Dr. Elisabeth Mangold, a lecturer from the Institute of Human Genetics at the University of Bonn, as saying.
This is a notable clue that a gene located in this region has something to do with the occurrence of clefts.
"Without this genetic factor on chromosome 8, the probability of a child in our population of getting clefts would be significantly less than 1 in 700. In effect, this is good news for all mothers of the children affected, who always thought, 'I must have done something wrong while I was pregnant.' You just can't help having the genes you have got," said Mangold.
The researchers are now aiming to show exactly which genes on chromosome are responsible and how it works.
"We are currently looking for it. It could indeed be what is known as a regulatory element that controls other genes," said Mangold.
The results appear in the forthcoming issue of the journal Nature Genetics.
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