In this article, we will discuss Brief Note on Genetic Studies in Malignant Conditions. So, let’s get started.
• Chromosome studies (Cytogenetics) The standard analysis of the chromosomal material evaluates both the number and structure of the chromosomes. Biopsy with an accuracy of over 99.9%. Chromosome analyses are usually performed using a blood sample (white blood cells), prenatal specimen, skin biopsy, or other tissue sample. Chromosome studies may be performed when people have certain types of leukemias and lymphomas.
• Biochemical genetic testing may be done from a blood sample, urine sample, spinal fluid or other tissue sample, depending on the disorder.
• Protein truncation studies another way to look at the gene products, rather than the gene itself, is through protein truncation studies. With the protein truncation test, it is possible to measure the length of the protein the gene is making to see if it is the right size or shortened.
• DNA studies: To study genes, we have to analyze the DNA to determine whether the DNA “alphabet” has any “spelling errors” in it. There are two ways to analyze the DNA: by direct studies (looking at the actual gene itself), or by indirect studies (looking at areas of DNA, called markers that are very close to the gene).
– Direct DNA studies: Errors in the DNA may include a replication of the gene’s DNA (duplication), a loss of a piece of the gene’s DNA (deletion), an alteration in a single unit (called a base pair) of the gene’s DNA (point mutation), or the repeated replication of a small sequence (for instance, 3 base pairs) of the gene’s DNA (trinucleotide repeat). Different types of errors or mutations” are found in different disorders. The DNA needed for direct DNA studies is usually obtained by taking a blood sample.
– Indirect DNA studies (linkage studies): Markersbare DNA sequences located close to or even within the gene of interest. Because the markers are so close, they are almost always inherited together with the disease. When markers are this close to a gene, they are said to be “linked.” If someone in a family has the same set of linked markers as the relative with the disease, this person often also has the disease-causing gene mutation.