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.

Accordi
'/>"/>

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

Page: 1 2

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:9/1/2015)... UK (PRWEB) , ... September 01, 2015 , ... ... a vacuum that creates negative pressure inside a wound to remove exudates, fluid, ... for treatment devices (comprising portable devices, stand-alone devices, disposable devices, and canisters, etc.) ...
(Date:9/1/2015)... (PRWEB) , ... September 01, 2015 , ... ... it is now offering the MonaLisa Touch® , an innovative vaginal health ... MonaLisa Touch® is a new hormone-free treatment for atrophic vaginitis, a condition that ...
(Date:9/1/2015)... , ... September 01, 2015 ... ... Background Screeners (NAPBS®) has announced that Edge Information Management has been ... the Background Screening Credentialing Council (BSCC). , ÔÇťAchieving and maintaining this ...
(Date:9/1/2015)... ... 2015 , ... PetPace, the provider of an innovative IoT ... today announced its integration with leading veterinary Practice Management Software vendor Cornerstone. ... Management Software packages in the US. Practice Management Software helps veterinarians manage every ...
(Date:9/1/2015)... ... September 01, 2015 , ... Discovia, ... entities, announced today that it has hired Scott Sanderson, an experienced business development ... capacity, Sanderson will be responsible for establishing and managing new client relationships in ...
Breaking Medicine News(10 mins):Health News:World Negative Pressure Wound Therapy Market Assessed by GlobalData in In-demand Report Published at MarketPublishers.com 2Health News:World Negative Pressure Wound Therapy Market Assessed by GlobalData in In-demand Report Published at MarketPublishers.com 3Health News:Houston's Plaza OB/GYN Now Offering the MonaLisa Touch® 2Health News:Houston's Plaza OB/GYN Now Offering the MonaLisa Touch® 3Health News:Edge Information Management Granted Continued NAPBS Accreditation 2Health News:Edge Information Management Granted Continued NAPBS Accreditation 3Health News:Petpace-Cornerstone Integration Lowers Overhead, Raises Data Visibility for Veterinary Practices 2Health News:Former NFL Standout Scott Sanderson Joins eDiscovery Leader Discovia 2
... interventions in future, study finds , , TUESDAY, April 7 ... two years after a diagnosis of early bladder cancer ... finds. , Researchers analyzed data on 20,713 Medicare patients ... The average cost of care for patients who received ...
... and possession of alcohol, zero tolerance prevent more than ... 7 (HealthDay News) -- Not all laws are created ... drinking-related auto accidents, say researchers who analyzed the impact ... Most effective, they found, are laws targeting the purchase ...
... scans improves access for patients to needed cancer ... GE Healthcare, a global leader in healthcare technology, ... the Centers for Medicare and Medicaid Services (CMS), ... tomography (PET) for Medicare beneficiaries who are diagnosed ...
... research exploring weight discrimination against women in the workplace. , ... , , , ... , , , ... , , , , ...
... offers helpATLANTA, April 7 Struggling with infertility issues ... a reality for some today. The troubled economy has ... shut down. And both women and men have biological ... have a baby but know they need some physical ...
... of a long-secret report by International Committee of the Red Cross ... secret detention centers committed gross violations of medical ethics and in ... ... (Vocus) April 7, 2009 -- The full disclosure of a ...
Cached Medicine News:Health News:Intensive Early Treatment Doesn't Help Bladder Cancer Survival 2Health News:Tough Legislation on Underage Drinking Seems to Save Lives 2Health News:Tough Legislation on Underage Drinking Seems to Save Lives 3Health News:GE Healthcare Applauds CMS for Supporting National FDG-PET Coverage Decision 2Health News:Weight discrimination could contribute to the glass ceiling effect for women, study finds 2Health News:Weight discrimination could contribute to the glass ceiling effect for women, study finds 3Health News:Weight discrimination could contribute to the glass ceiling effect for women, study finds 4Health News:Infertility Issues and No Insurance Do Not Necessarily Mean No Hope for Baby 2Health News:In Wake of ICRC Report, Health Professionals Must Be Held Accountable for Torture 2Health News:In Wake of ICRC Report, Health Professionals Must Be Held Accountable for Torture 3
(Date:9/1/2015)... 2015 Taiwan,s GNT ... in Taipei on  August 25 ... platform, a targeted drug delivery technology that uses nano-scale ... was part of a joint press conference held by ... (GNT), showcasing GNT,s latest edible gold-based food and beverage ...
(Date:9/1/2015)... 1, 2015 Sargas Pharmaceutical Adherence and ... Drug Adherence m Health applications along with 24 ... of non face-to-face monitoring of twenty minutes per ... of our apps, doctors are now well prepared ... our ONCHIT certified Physician, Pharmacy and Patient portals ...
(Date:9/1/2015)... Agena Bioscience TM today announced the establishment ... commercial and financial hub from which many biotech and life ... in mainland China . "The ... sales with almost sixty MassARRAY ® Systems installed to ... allow us to expand our reach and foster a high ...
Breaking Medicine Technology:GNTbm Updates Developments in the Vaucarrin(TM) annogold Drug Delivery Platform 2GNTbm Updates Developments in the Vaucarrin(TM) annogold Drug Delivery Platform 3GNTbm Updates Developments in the Vaucarrin(TM) annogold Drug Delivery Platform 4GNTbm Updates Developments in the Vaucarrin(TM) annogold Drug Delivery Platform 5SPAC International's Drug Adherence and Chronic Care Management App Now available at Apple App and Google Play stores 2Agena Bioscience Opens Office in Shanghai, China 2
... ROSWELL, Ga., Sept. 1, 2011 Kimberly-Clark Health ... a double-digit price increase on synthetic exam gloves ... of raw materials, particularly butadiene and acrylonitrile.   ... for these raw materials along with inflationary pressures ...
... month, Floridians are recognizing "Plasma Protein Therapies Month," by ... throughout the "Sunshine State" and for the rare, genetic ... through plasma donation. Plasma protein therapies, which ... biotechnology product), are used every day to treat people ...
Cached Medicine Technology:Floridians Recognized for Role in Helping Rare Disease Patients Who Need Lifesaving Therapies 2Floridians Recognized for Role in Helping Rare Disease Patients Who Need Lifesaving Therapies 3
...
No. 1. 30 mm conventional blades. Thin well-rounded tips....
Open blade speculum designed for both temporal and superior approach ocular surgery. Thumb screw adjusting mechanism. Manufactured in titanium....
Adjustable lid speculum angled 45 degrees with 17 mm curved solid blades and aspiration ports to remove excess fluid from around the eye during ocular procedures....
Medicine Products: