Navigation Links
Researchers estimate risk of transmission of Huntington's disease to offspring among male carriers
Date:6/9/2009

(Boston) 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 on-line 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.


'/>"/>

Contact: Gina M. DiGravio
gina.digravio@bmc.org
617-638-8480
Boston University Medical Center
Source:Eurekalert

Related medicine news :

1. LSUHSC researchers first to document early signs for diabetes in kids as young as 7
2. Researchers work to boost effectiveness of the flu vaccine
3. Researchers develop the first climate-based model to predict Dengue fever outbreaks
4. Researchers Uncover Why Turmeric Helps Heal
5. Researchers Detect Blood-Clotting Mechanism
6. Jefferson researchers identify critical marker of response to gemcitabine in pancreatic cancer
7. QIO Support Accelerates Hospital Improvement in Heart Care, Researchers Find
8. Oxygen + MRI might help determine cancer therapy success, researchers find
9. Researchers Suggest That Oxidative Stress is Strongly Evident in the In-Utero Environment of the Fetus With Down Syndrome
10. Researchers call for new space headache category following astronauts survey
11. Outsmarting Brain Tumors: Cedars-Sinai Researchers, Neurosurgeons and Other Experts Present Free Conference for Adult Brain Tumor Patients and Caregivers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/27/2016)... ... June 27, 2016 , ... ... patient payment industry today announced its strategic partnership with Connance, a healthcare ... , The two companies’ proven, proprietary technology combine to provide health systems, ...
(Date:6/26/2016)... ... 27, 2016 , ... Quality metrics are proliferating in cancer care, and are ... the eye of the beholder, according to experts who offered insights and commentary in ... Managed Care. For the full issue, click here . , For the American ...
(Date:6/26/2016)... Cary, North Carolina (PRWEB) , ... June 26, 2016 , ... ... the release of a new product that was developed to enhance the health of ... harvested for centuries. , The two main herbs in the PawPaws Cat Kidney ...
(Date:6/25/2016)... ... 2016 , ... Experts from the American Institutes for Research ... June 26-28, 2016, at the Hynes Convention Center in Boston. , AIR experts ... planning, healthcare costs and patient and family engagement. , AIR researchers will be ...
(Date:6/25/2016)... , ... June 25, 2016 , ... "With 30 hand-drawn ... specific project," said Christina Austin - CEO of Pixel Film Studios. , ProHand ... all within Final Cut Pro X . Simply select a ProHand generator and ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... , June 24, 2016 Research ... World Market for Companion Diagnostic Tests" report to their ... Market for Companion Diagnostics The World Market ... and personalized medicine diagnostics. Market analysis in the report includes ... Test Market (In Vitro Diagnostic Kits) by Region (N. America, ...
(Date:6/23/2016)...  MedSource announced today that it has selected ... of choice.  This latest decision demonstrates MedSource,s commitment ... clients by offering a state-of-the-art electronic data capture ... as the EDC platform of choice in exchange ... has long been a preferred EDC platform by ...
(Date:6/23/2016)... -- Roche (SIX: RO, ROG; OTCQX: RHHBY) announced that ... PCT (procalcitonin) assay as a dedicated testing solution for ... clearance, Roche is the first IVD company in the ... risk assessment and management. PCT is a ... in blood can aid clinicians in assessing the risk ...
Breaking Medicine Technology: