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| On the spot | |
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| Researchers in Buffalo, New York have developed a rapid, cost-effective method of screening for
CPT2 mutations using DNA from whole blood spots. Georgirene D. Vladutiu, Ph.D., Director of The Robert Guthrie Biochemical Genetics Laboratory at Children’s Hospital of Buffalo, is presently using the protocol for mutation screening of patients with biochemically proven CPT II deficiency. The protocol will also be useful in determining the incidence of the common CPT2 mutations—such as S113L—among high risk groups in the general population. The new method eliminates the need for venous blood samples, thus simplifying the collection and shipping process. Specimens can be collected by patients on IsoCode Stix™ and can be shipped and stored at room temperature. One single dried blood stick provides ample DNA for analysis. IsoCode Stix™ also make it possible to streamline the processing of specimens. Dried whole blood on filter paper is easy to process since it releases DNA with simple water and heat elution. The specimens are placed in sterile microcentrifuge tubes, washed with deionized H2O and heated for 30 minutes at 95° C in 100 µl of fresh H2O. This process yields amplifiable DNA in less than an hour. Previous methods required parts of several days to complete and were too expensive for large-scale population screening. 
Patients with confirmed CPT II deficiency interested in mutation screening can contact Dr. Vladutiu at
mitomaven@aol.com |
Dr. Vladutiu is Professor of Pediatrics, Neurology and Pathology at the State University of New York at Buffalo School of Medicine. The recipient of an MDA research grant, her recent work has focused on molecular genetic studies of carnitine palmitoyltransferase deficiencies. |
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| Reference: Smail D. et al. Clin Chem 1999 45(11):2035-8 Related links: IsoCode Stix™ Protocol Pictures of the product, as well as a detailed protocol on the collecting and processing of specimens. The Polymerase Chain Reaction 
Great 8-page article about DNA amplification techniques written for the general public. Polymerase Chain Reaction Nice color graphic illustration of the PCR technique of DNA amplification. Saliva: Your Spitting Image Interesting article from Doctor's Guide about DNA analysis via saliva. It also explains PCR technology and its application to identifying individuals at risk for certain diseases.
To read more about known CPT2 mutations, visit Keep
the change. To read about two
brothers that have been screened for known CPT2 mutations,
visit Half time.
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When
you lick an envelope, you may be sending a more detailed
message than you realize. Your saliva leaves a DNA fingerprint
that not only says who you are but also whether you have a
genetic predisposition for certain diseases.
