Positional cloning is a genetic screening technique that identifies areas of interest in the genome and determines their function. Researchers use genetic markers and databases to narrow down areas of interest and experiment with mutations to learn more. This technique can help map the genome, develop tests for inherited conditions, and potentially lead to treatments and cures. However, it also raises ethical questions about genetic testing and selective abortion.
Positional cloning is a technique used in genetic screening to identify specific areas of interest in the genome and then determine what they do. This type of screening is sometimes referred to as reverse genetics, because researchers start by finding out where a gene is and then determine what it does, in contrast to methods that start by determining a gene’s function and then finding it in the genome. This technique has identified genes related to conditions such as Huntington’s disease and cystic fibrosis.
In this process, researchers find an area of interest on the genome by looking for genetic markers. They often leverage databases that compile information about people with medical conditions so they can identify common traits that can be used to narrow down an area of the genome that could reveal useful information. Once the markers are found, a researcher can clone and investigate the area of interest to determine what it does. Positional cloning can also be used to select specific individuals for genetic problems.
This technique depends on a very large and well-equipped laboratory that a researcher can use to study the genome and experiment with mutations. It also relies on a genome database that researchers can use to compare their results to the genomes of normal individuals, along with individuals who have various mutations and medical conditions. In organisms such as plants and fruit flies, a researcher can actually stimulate the creation of mutations with genetic manipulation to learn more about how an area of the genome works. Such experimentation in humans is unethical, forcing researchers to compare the information they find with genetic samples, looking for signs of mutations and how mutations express themselves.
Using procedures like this, researchers can map the genome and slowly but steadily discover what each area of it does. The more information researchers find, the easier their job is, as they can start to find related markers and traits that interact with each other. Genome analysis will also enable researchers to develop tests that can be used to look for specific inherited conditions and mutations. These tests can be used to examine fetuses for potential birth defects and to test children and adults for underlying genetic conditions that may show up later in life.
Like many types of genome-related research, positional cloning can sometimes be controversial. By finding the sites of specific genetic conditions, researchers lay the groundwork for potential treatments and cures, but it also raises questions about genetic testing and how it can be used. For example, with a genetic test to look for genes related to Huntington’s disease, parents could choose to test a fetus during pregnancy and abort it if the test is positive, a choice that could raise uncomfortable ethical questions.
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