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:8/17/2017)... , ... August 17, 2017 , ... ... (ER) on Wednesday, August 16, to community partners. The newly renovated ER was ... Track” area for minor emergencies, eight semi-private rooms to deliver patient results, improve ...
(Date:8/17/2017)... (PRWEB) , ... August 17, 2017 , ... ... Injury: The Journey to Healing Through Forgiveness ($15.99, paperback, 9781498497626; $7.99, eBook, ... trauma, to encourage inner healing of memories and achieve forgiveness, through a progressive ...
(Date:8/17/2017)... ... ... digital marketing for medical practices, has been recognized as one of the fastest growing privately ... second time in two years. Shawn Miele, Chief Executive Officer of Advice Media, said, “We ... a row. It’s extremely difficult to make this list once. The fact that we made ...
(Date:8/16/2017)... ... ... Summer days spent with family are priceless. Since August is Family Fun ... the season of sunshine. Add trying something new to this summer’s bucket list. Whether ... the fun. , Try Something New , Choose an activity the ...
(Date:8/16/2017)... , ... August 16, 2017 , ... Ten outstanding teachers ... Stars in the Classroom and will win a visit by a Houston Texans player, ... who are at least five years old can visit texanschecking.com/stars to nominate their favorite ...
Breaking Medicine News(10 mins):
(Date:7/27/2017)... July 27, 2017  Zimmer Biomet Holdings, Inc. (NYSE ... ended June 30, 2017.  The Company reported second quarter ... over the prior year period, and an increase of ... basis points of contribution from the LDR Holding Corporation ... second quarter of 2016, or 0.3% on a constant ...
(Date:7/26/2017)... Aesthetics, a leading medical aesthetic clinic in Singapore ... skin conditions from the inside. The natural process of ... skin becomes more transparent due to the thinning of the epidermis. Over ... the sun contributes to aging skin, causing age spots and other ... ...
(Date:7/25/2017)... Spain and CAMBRIDGE, Massachusetts , ... Biotech, specializing in repurposing drugs to treat rare nervous system ... Inc. to clinically develop and market the drug SOM0226 against ... the drug achieved very promising results in a Phase 2 ... A new office in the United States ...
Breaking Medicine Technology: