Technology
A procedure used to demonstrate nucleotide sequence variations that occur in the same region of DNA between individuals within a species, or between alleles in an individual to detect mutations in various genes, such as oncogenes, tumor suppressor genes, or genes responsible for genetic diseases. The method detects different conformations adopted by partially denatured DNA fragments resulting from their specific nucleotide sequences under denaturing conditions. Denatured single-stranded DNA fragments are allowed to partially renature without formation of double-stranded DNA. The particular conformations adopted by each of the renatured fragments depend on each of their specific nucleotide sequences. The fragments are run on polyacrylamide gels to detect subtle changes in migration due to their particular secondary structures. Resulting fragment band in the gel will misalign if any point mutations are present to alter the conformation.
Diagnostic Methods
Artículo
Research record from Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2026-09-01. PMID 42663019.
Pruebas
A 17-hydroxyprogesterone test measures the amount of 17-hydroxyprogesterone (17-OHP) in a sample of your blood. 17-OHP is a substance that your adrenal glands make. Health care providers can use this test to help diagnose a group of uncommon genetic disorders that affect the adrenal glands. These genetic adrenal gland disorders are called congenital adrenal hyperplasia (CAH). Your adrenal glands are two small organs that sit on top of each kidney. They make different types of hormones , which are chemical messengers in your bloodstream that control the actions of certain cells or organs.
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Partner
PathoNostics lists Alfa Genetics in its distributor directory for Serbia.
Pruebas
An AFP test is a blood test that measures the level of alpha-fetoprotein (AFP) in your blood when you are pregnant. The test checks your baby's risk of having certain birth defects and genetic problems , but it does not diagnose any health conditions. The test is usually done between 15 and 20 weeks of pregnancy .
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A BCR-ABL1 genetic test uses a sample of blood or bone marrow to look for an abnormal gene called BCR-ABL1. This abnormal gene is found in certain types of blood cancer , such as chronic myeloid leukemia (CML).
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A BRAF genetic test uses a sample of tumor tissue, bone marrow, or blood to look for changes in a gene called BRAF . Changes in your genes are also called gene variants or mutations. The test is usually done to look for changes in the BRAF gene that may be involved in cancer .
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BRCA is short for "breast cancer gene." A BRCA genetic test uses a sample of your blood, saliva (spit), or cells from inside of your cheek to look for changes in your BRCA1 and BRCA2 genes. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent. Genes carry information that controls what you look like and how your body works.
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Pruebas
A ceruloplasmin test measures the amount of ceruloplasmin in a sample of your blood. Your liver makes ceruloplasmin by attaching copper to a protein. Your liver releases the ceruloplasmin into your bloodstream so it can carry copper to the parts of your body that need it.
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Glossary Term
The genetic material of the nucleus, consisting of deoxyribonucleoprotein, which occurs in two forms during the phase between mitotic divisions: 1) as heterochromatin, seen as condensed, readily stainable clumps; 2) as euchromatin, dispersed lightly staining or nonstaining material. During mitotic division the chromatin condenses into chromosomes.
Pcr Terms
Glossary Term
A specific sequence of three adjacent bases on a strand of DNA or RNA that provides genetic code information for a particular amino acid.
Pcr Terms
Glossary Term
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
Pcr Terms
