Featured Research

from universities, journals, and other organizations

Cleft Lip And Palate: Scientists Discover Gene Locus Associated With Deformity

Date:
March 13, 2009
Source:
University of Bonn
Summary:
Scientists discover the gene locus associated with cleft lip and palate. Comparing 500,000 snippets of human DNA put scientists on the right track. A genetic variant on chromosome 8 occurs with significantly higher frequency in people with cleft lip and palate than in the control group.

Comparing 500,000 snippets of human DNA put scientists from the University of Bonn on the right track. A genetic variant on chromosome 8 occurs with significantly higher frequency in people with cleft lip and palate than in the control group.

Cleft lips and palates are among the most frequent innate abnormalities. One in about 700 babies in Central Europe are affected. Children in particular suffer a lot from the deformity, even if the insulting and discriminating term 'harelip' has fortunately almost died out.

In the cleft lip and palate, different tissue processes of the face and mouth area do not fuse together or do so insufficiently. This results in a gap remaining between lip, jaw and sometimes the palate. It seems likely that several factors have to add up in order for clefts to form. Both environmental influences which have an impact on the child in the womb and genetic factors contribute to the deformity. However, the results of the scientists from Bonn could also point to genes playing a far more important role in the formation of clefts than was previously thought.

The long arm of chromosome 8

The human geneticists from the University of Bonn had examined the DNA of 460 persons with clefts. More than half of them were examined more closely. The scientists analysed more than 500,000 items of information from their DNA and then compared these with the genetic snippets of a control group. 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,' Dr. Elisabeth Mangold, a lecturer from the Institute of Human Genetics at the University of Bonn, explains. This is a notable clue that a gene located in this region has something to do with the occurrence of clefts.

Good news for mothers of children affected

'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,' Elisabeth Mangold points out. '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.'

Further research now aims to show which gene exactly on chromosome 8 is responsible and how it works. 'We are currently looking for it,' Dr. Mangold explains. 'It could indeed be what is known as a regulatory element that controls other genes.' When the mechanisms of all the genes involved and the interplay with environmental factors are understood, the scientists can also say whether prophylaxis involving medication during pregnancy makes sense. There are currently several indications that taking particular vitamins during pregnancy can counteract deformities in embryos.

The results are to be published in the forthcoming issue of the journal

Nature Genetics

.


Story Source:

The above story is based on materials provided by University of Bonn. Note: Materials may be edited for content and length.


Cite This Page:

University of Bonn. "Cleft Lip And Palate: Scientists Discover Gene Locus Associated With Deformity." ScienceDaily. ScienceDaily, 13 March 2009. <www.sciencedaily.com/releases/2009/03/090308142253.htm>.
University of Bonn. (2009, March 13). Cleft Lip And Palate: Scientists Discover Gene Locus Associated With Deformity. ScienceDaily. Retrieved July 22, 2014 from www.sciencedaily.com/releases/2009/03/090308142253.htm
University of Bonn. "Cleft Lip And Palate: Scientists Discover Gene Locus Associated With Deformity." ScienceDaily. www.sciencedaily.com/releases/2009/03/090308142253.htm (accessed July 22, 2014).

Share This




More Health & Medicine News

Tuesday, July 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

TheStreet (July 21, 2014) New research shows Gilead Science's drug Sovaldi helps in curing hepatitis C in those who suffer from HIV. In a medical study, the combination of Gilead's Hep C drug with anti-viral drug Ribavirin cured 76% of HIV-positive patients suffering from the most common hepatitis C strain. Hepatitis C and related complications have been a top cause of death in HIV-positive patients. Typical medication used to treat the disease, including interferon proteins, tended to react badly with HIV drugs. However, Sovaldi's %1,000-a-pill price tag could limit the number of patients able to access the treatment. TheStreet's Keris Lahiff reports from New York. Video provided by TheStreet
Powered by NewsLook.com
$23.6 Billion Awarded To Widow In Smoking Lawsuit

$23.6 Billion Awarded To Widow In Smoking Lawsuit

Newsy (July 20, 2014) Cynthia Robinson claims R.J. Reynolds Tobacco Company hid the health and addiction risks of its products, leading to the death of her husband in 1996. Video provided by Newsy
Powered by NewsLook.com
Tooth Plaque Provides Insight Into Diets Of Ancient People

Tooth Plaque Provides Insight Into Diets Of Ancient People

Newsy (July 19, 2014) Research on plaque from ancient teeth shows that our prehistoric ancestor's had a detailed understanding of plants long before developing agriculture. Video provided by Newsy
Powered by NewsLook.com
Contaminated Water Kills 3 Babies in South African Town

Contaminated Water Kills 3 Babies in South African Town

AFP (July 18, 2014) Contaminated water in South Africa's northwestern town of Bloemhof kills three babies and hospitalises over 500 people. The incident highlights growing fears over water safety in South Africa. Duration: 02:22 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins