Featured Research

from universities, journals, and other organizations

Risk Of Transmission Of Huntington's Disease To Offspring Among Male Carriers Estimated

Date:
June 14, 2009
Source:
Boston University Medical Center
Summary:
Researchers have quantified the probability of a male who carries a "high normal" variant of the Huntington's disease gene having a child who develops the disease. Although thought to be a very rare event, the probability has never been estimated using current information and disease guidelines. The findings may be useful during prenatal genetic counseling.

Researchers from Boston University School of Medicine (BUSM) have quantified the probability of a male who carries a "high normal" variant of the Huntington's Disease (HD) gene having a child who develops the disease. Although thought to be a very rare event, the probability has never been estimated using current information and disease guidelines. The findings, appear online in the American Journal of Medical Genetics, may be useful during prenatal genetic counseling.

Huntington disease (HD) is a hereditary neurodegenerative disorder that arises from expansion of a CAG trinucleotide repeat on chromosome 4. Individuals with a variant of at least 36 CAG repeats will likely develop HD in their lifetime. Most individuals have a variant below 27 CAG repeats and are not at risk for the disease nor are they at risk of passing on the disease to their children. However, although individuals with a variant between 27 and 35 CAG repeats (called high normal) are not at risk of developing HD, males may pass an expanded CAG repeat onto their children making the child at risk of developing HD.

While several studies suggest that male carriers of high normal alleles have a low probability of transmitting an expanded HD allele in the penetrant range, few studies have attempted to estimate this probability.

The researchers estimated the conditional probability of an offspring inheriting an expanded allele from a father with a high normal allele by applying probability definitions and rules to estimates of HD incidence, paternal birth rate, frequency of no family history of HD, and frequency of high normal alleles in the general population. "The estimated probability that a male high normal allele carrier will have an offspring who develops HD ranges from 1/6,241 to 1/951," said lead author Audrey Hendricks, a research assistant and biostatistics doctoral student at BUSM and Boston University School of Public Health.

According to the researchers, the proportion of males who have a high normal allele is less than three percent. "Using our maximum probability estimate of 1/951, we see that over 30,000 men would need to be gathered to find one man with a high normal allele who has a child who develops HD," explained Hendricks.

"Even with our effort to provide a conservative estimate, our estimate for the maximum probability suggests that expansion rates are rare. However, it provides a baseline to assist genetic counselors and high normal allele carriers with family planning," she added.

Funding for this study was provided by the NIH program project grant ''Huntington's Disease Center Without Walls,'' the Jerry MacDonald HD Research Fund, the Huntington's Disease Society of America, the Massachusetts Huntington's Disease Society of America, the HDSA Coalition for the Cure, and by the National Institute of Neurological Disorders and Stroke.


Story Source:

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


Cite This Page:

Boston University Medical Center. "Risk Of Transmission Of Huntington's Disease To Offspring Among Male Carriers Estimated." ScienceDaily. ScienceDaily, 14 June 2009. <www.sciencedaily.com/releases/2009/06/090609111227.htm>.
Boston University Medical Center. (2009, June 14). Risk Of Transmission Of Huntington's Disease To Offspring Among Male Carriers Estimated. ScienceDaily. Retrieved October 23, 2014 from www.sciencedaily.com/releases/2009/06/090609111227.htm
Boston University Medical Center. "Risk Of Transmission Of Huntington's Disease To Offspring Among Male Carriers Estimated." ScienceDaily. www.sciencedaily.com/releases/2009/06/090609111227.htm (accessed October 23, 2014).

Share This



More Health & Medicine News

Thursday, October 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Fears Keep Guinea Hospitals Empty

Ebola Fears Keep Guinea Hospitals Empty

AP (Oct. 23, 2014) Fears of Ebola are keeping doctors and patients alike away from hospitals in the West African nation of Guinea. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Working Mother (Oct. 22, 2014) Is your child ready? Video provided by Working Mother
Powered by NewsLook.com
U.S. Issues Ebola Travel Restrictions, Are Visa Bans Next?

U.S. Issues Ebola Travel Restrictions, Are Visa Bans Next?

Newsy (Oct. 22, 2014) Now that the U.S. is restricting travel from West Africa, some are dropping questions about a travel ban and instead asking about visa bans. Video provided by Newsy
Powered by NewsLook.com
More People Diagnosed With TB In 2013, But There's Good News

More People Diagnosed With TB In 2013, But There's Good News

Newsy (Oct. 22, 2014) The World Health Organizations says TB numbers rose in 2013, but it's partly due to better detection and more survivors. Video provided by Newsy
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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