Clinical Applications

Denaturing gradient gel electrophoresis can be used for genetic diagnosis of hereditary human diseases caused by small mutations even when doing diagnosis for X-linked human diseases. It is also possible to analyze SNPs (genetic alterations where at least one allele frequency is higher than 1%) to associate with hereditary complex disease traits.

In many cases, mutation detection can be used in choosing adequate healthcare, as some mutation positions are associated with the worst prognostic. Knowing the exact mutation position makes it possible to establish the prognostic prior to the disease development course and, based on this, to decide which one is the best therapy. Knowing the polymorphism makes it possible to associate some polymorphisms with hereditary complex disease traits for each different population; for example, renin-angiotensin system polymorphisms are associated with high blood pressure in Japanese and African Ameri-can.[1U2]

Denaturing gradient gel electrophoresis can also be used for predictive genetic testing, including prenatal diagnosis. Knowing a priori if a patient has inherited a familiar mutation with late expression, a polymorphism, or knowing during pregnancy if a baby has inherited a hereditary human disease can help health-care professionals in choosing an adequate strategy to care for the disease, to delay the disease development, or to establish the best life conditions during the disease course.

Denaturing gradient gel electrophoresis is also useful for counseling in an effort to avoid new cases of human hereditary diseases. In X-linked human diseases, for example, carrier couples can alternatively do in vitro fertilization with male embryo implantation to avoid new disease cases. Because mutation detection is close to 100% when using DGGE, we can do prenatal diagnosis and counseling knowing that we will give an answer to the family question and that not one family member will remain excluded from the analysis.

Denaturing gradient gel electrophoresis can also be used to perform large-scale population screening to improve genetic analysis. It is important for this kind of study as some mutations or polymorphisms have a high frequency in one population and a low frequency in another. Analyzing these frequency changes makes it possible to establish specific health-care rules for each different population, principally in hereditary complex disease traits where ethnic factors have an important role in inherited genes.[13]

Denaturing gradient gel electrophoresis is usually cheaper and less labor intensive and time consuming than other routinely used point mutation detection techniques, does not require radioisotope use, is easy to reproduce, and, despite this, has a high detection rate (close to 100%). Considering all these related qualities DGGE can be used as a medical routine procedure for practicing clinicians in hospitals and ambulatory settings.

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