New method developed to identify genetic determinants of Alzheimer's disease

Jan 14, 2008

A rapid and accurate DHPLC assay for determination of apolipoprotein E genotypes has been developed by researchers from the Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. This assay combines PCR and DHPLC and can be used to conduct efficient genotyping of the human population, which in turn will help in the diagnosis and treatment of Alzheimer’s disease. A description of the assay has been published this month in the Journal of Alzheimer’s Disease.

Apolipoprotein E is a predisposing gene of Alzheimer’s disease and many other diseases. APOE has three major alleles, å2, å3 and å4. The combinations of the three common alleles result in six genotypes (å2å2, å3å3, å4å4, å2å3, å3å4, and å2å4) that exist within the population. Many studies indicate that people who have the E4 allele are at greater risk to develop Alzheimer's disease than those with the E3 allele and that the E2 allele may even help resist Alzheimer's disease. As a result, the rapid and accurate determination of APOE genotypes and the assessment of disease predisposition will be extremely valuable in augmenting the clinical diagnosis and treatment of the disease.

The medical genetic team, led by Professor Xiang-Min Xu at Southern Medical University, developed the assay during research funded by the National Science Fund for Distinguished Young Scholars of China. The polymerase chain reaction (PCR) was designed to generate the 191-bp amplicons containing two common polymorphisms within codons 112 and 158 in exon4 of the APOE gene.

The PCR amplicons for each sample were subjected to denaturing high-performance liquid chromatography (DHPLC) analysis, which was performed under partially denaturing conditions as determined by profiling the mixture of a tested sample and a homozygous standard control amplicon at the given ratio. In almost 300 samples detected, the accuracy of the assay reached 100%.

Dr. Tian-Ming Gao, Head of the Neurobiology Department, School of Basic Medical Sciences, Southern Medical University: “As China has a huge population that is stepping into old age, the number of the victims of Alzheimer’s disease is on the rise. Therefore, we felt that the development of a rapid and accurate assay that can determine individuals predisposed to Alzheimer’s disease would have great utility.”

Dr. Wei-ping Liao, Head of the Institute of Neuroscience, Guangzhou Medical College: “This method can be applied to a vast range of diseases and has created a new approach for the molecular diagnosis of genetic diseases. Based on the results from this method, neurologists can know more about the genetic background of a patient. It will help in further diagnosis and treatment.”

Source: IOS Press

Explore further: Nocturnal GERD tied to non-infectious rhinitis

add to favorites email to friend print save as pdf

Related Stories

Cells target giant protein crystals for degradation

Mar 12, 2015

Researchers at the RIKEN Brain Science Institute in Japan engineered a fluorescent protein that rapidly assembles into large crystals inside living cells, and showed that cells actively targeted the crystals ...

The super-resolution revolution

Feb 27, 2015

Cambridge scientists are part of a resolution revolution. Building powerful instruments that shatter the physical limits of optical microscopy, they are beginning to watch molecular processes as they happen, ...

Evolving a bigger brain with human DNA

Feb 19, 2015

The size of the human brain expanded dramatically during the course of evolution, imparting us with unique capabilities to use abstract language and do complex math. But how did the human brain get larger ...

Recommended for you

Nocturnal GERD tied to non-infectious rhinitis

21 hours ago

(HealthDay)—Nocturnal gastroesophageal reflux disease (GERD) appears to be a risk factor for non-infectious rhinitis (NIR), according to a study published online March 24 in Allergy.

COPD takes big toll on employment, mobility in US

Mar 27, 2015

(HealthDay)—The respiratory illness known as COPD takes a toll on mobility and employment, with a new report finding that nearly one-quarter of Americans with the condition are unable to work.

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.