Template:Genetic Terms: Difference between revisions
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[[Molecular Development]] | {| class="wikitable mw-collapsible mw-collapsed" | ||
! Genetic Terms (expand to view) | |||
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| {{genetic abnormalities}} | [[Molecular Development]] | {{Meiosis}} | {{Mitosis}} | |||
* '''{{Alpha-Fetoprotein}} test''' (APF test) A prenatal test to measure the amount of a fetal protein in the mother's blood (or amniotic fluid). Abnormal amounts of the protein may indicate genetic or developmental problems in the fetus. Serum alpha-fetoprotein (AFP) is a fetal glycoprotein produced by the yolk sac and fetal liver. Low levels of AFP normally occur in the blood of a pregnant woman, high levels may indicate neural tube defects (spina bifida, anencephaly). (More? {{Alpha-Fetoprotein}}) | |||
* '''anaphase B''' - Cell division term referring to the part of anaphase during which the poles of the mitotic spindle move apart. (More? {{Mitosis}}) | * '''anaphase B''' - Cell division term referring to the part of anaphase during which the poles of the mitotic spindle move apart. (More? {{Mitosis}}) | ||
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* '''dominant inheritance''' - With autosomal dominant inheritance, there is an error in one of the 22 chromosome pairs. But the damaged gene dominates over the normal gene received from the other parent. If one of the parents has a disease caused by an autosomal dominant gene, all the children will have a 50 per cent risk of inheriting the dominant gene and a 50 per cent chance of not inheriting it. The children who do not inherit the damaged dominant gene will not themselves suffer from the disease, nor will they be able to pass the gene on to future children. This type of inheritance is present for example in Huntington's disease. | * '''dominant inheritance''' - With autosomal dominant inheritance, there is an error in one of the 22 chromosome pairs. But the damaged gene dominates over the normal gene received from the other parent. If one of the parents has a disease caused by an autosomal dominant gene, all the children will have a 50 per cent risk of inheriting the dominant gene and a 50 per cent chance of not inheriting it. The children who do not inherit the damaged dominant gene will not themselves suffer from the disease, nor will they be able to pass the gene on to future children. This type of inheritance is present for example in Huntington's disease. | ||
* '''Down Syndrome''' - The historic name used for {{trisomy 21}}, named after the original identifier Down, J.L.H. in a 1866 paper (cited above). | |||
* '''enhancer''' - A cis-regulatory sequence that can regulate levels of transcription from an adjacent promoter. Many tissue-specific enhancers can determine spatial patterns of gene expression in higher eukaryotes. Enhancers can act on promoters over many tens of kilobases of DNA and can be 5' or 3' to the promoter they regulate. | * '''enhancer''' - A cis-regulatory sequence that can regulate levels of transcription from an adjacent promoter. Many tissue-specific enhancers can determine spatial patterns of gene expression in higher eukaryotes. Enhancers can act on promoters over many tens of kilobases of DNA and can be 5' or 3' to the promoter they regulate. | ||
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* '''ncRNA''' - non-coding RNA. | * '''ncRNA''' - non-coding RNA. | ||
* '''nuchal translucency''' - (fetal nuchal-translucency thickness) An initial {{trisomy 21}} diagnostic ultrasound measurement in the fetal neck region carried out by trans-abdominal ultrasound at gestational age {{GA}} 10–14 weeks. Fetal sagittal section scan at a magnification that the fetus occupied at least 75% of the image. Measured is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine. | |||
* '''Philadelphia chromosome''' - (Philadelphia translocation) Genetic term referring to a chromosomal abnormality resulting from a reciprocal translocation between chromosome 9 and 22 (t(9;22)(q34;q11)). This is associated with the disease chronic myelogenous leukemia (CML). | * '''Philadelphia chromosome''' - (Philadelphia translocation) Genetic term referring to a chromosomal abnormality resulting from a reciprocal translocation between chromosome 9 and 22 (t(9;22)(q34;q11)). This is associated with the disease chronic myelogenous leukemia (CML). | ||
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* '''segmental aneuploidies''' - generated when a small piece of a chromosome is gained or lost during cell division, resulting in subchromosomal copy number (CN) changes. | * '''segmental aneuploidies''' - generated when a small piece of a chromosome is gained or lost during cell division, resulting in subchromosomal copy number (CN) changes. | ||
* '''single umbilical artery''' - (SUA) Placental cord with only a single placental artery (normally paired). This abnormality can be detected by ultrasound (colour flow imaging of the fetal pelvis) and is used as an indicator for further prenatal diagnostic testing for chromosomal abnormalities and other systemic defects. (More? [[Prenatal Diagnosis]] | [[Ultrasound]]) | |||
* '''telophase''' - Cell division term referring to the fifth [[M#mitosis|mitotic]] stage, where the vesicles of the nuclear envelope reform around the daughter cells, the nucleoli reappear and the chromosomes unfold to allow gene expression to begin. This phase overlaps with [[C#cytokinesis|cytokinesis]], the division of the cell cytoplasm. | * '''telophase''' - Cell division term referring to the fifth [[M#mitosis|mitotic]] stage, where the vesicles of the nuclear envelope reform around the daughter cells, the nucleoli reappear and the chromosomes unfold to allow gene expression to begin. This phase overlaps with [[C#cytokinesis|cytokinesis]], the division of the cell cytoplasm. | ||
* '''telomere''' - regions at the end of chromosomes. Shortening of the telomeres is thought to be associated with cellular aging. The enzyme that maintains the telomere is called telomerase. Introducing this gene into a cell can extend the cells lifespan. | * '''telomere''' - regions at the end of chromosomes. Shortening of the telomeres is thought to be associated with cellular aging. The enzyme that maintains the telomere is called telomerase. Introducing this gene into a cell can extend the cells lifespan. | ||
* '''topologically associating domain''' - (TAD) a self-interacting genomic region, DNA sequences within a TAD physically interact with each other more frequently than with sequences outside the TAD. | |||
* '''transcription factor''' - a protein which binds to DNA activating (usually) gene expression. There are many different ways and forms that this activation can take place, but most transcription factors fall into specific classes (eg zinc fingers, helix loop helix). | * '''transcription factor''' - a protein which binds to DNA activating (usually) gene expression. There are many different ways and forms that this activation can take place, but most transcription factors fall into specific classes (eg zinc fingers, helix loop helix). | ||
* '''triple markers''' - alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. ))trisomy 21}} | |||
* '''triploidy''' - genetic abnormality caused by one additional set of chromosomes, for a total of 69 chromosomes. Maternally present with albuminuria, edema, or hypertension. Extra maternally inherited chromosomes, microcephaly and an enlarged placenta that is enlarged and filled with cysts. Extra paternally inherited chromosomes, severe growth problems, enlarged head, and a small placenta. Non-mosaic triploidy is highly lethal, and is rarely observed in live births. {{ICD-11}} {{ICD11weblink}}1900317965 LD42.0 Triploidy] | * '''triploidy''' - genetic abnormality caused by one additional set of chromosomes, for a total of 69 chromosomes. Maternally present with albuminuria, edema, or hypertension. Extra maternally inherited chromosomes, microcephaly and an enlarged placenta that is enlarged and filled with cysts. Extra paternally inherited chromosomes, severe growth problems, enlarged head, and a small placenta. Non-mosaic triploidy is highly lethal, and is rarely observed in live births. {{ICD-11}} {{ICD11weblink}}1900317965 LD42.0 Triploidy] | ||
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* '''uniparental disomy''' - Genetic term referring to cells containing both copies of a homologous pair of chromosomes from one parent and none from the other parent. | * '''uniparental disomy''' - Genetic term referring to cells containing both copies of a homologous pair of chromosomes from one parent and none from the other parent. | ||
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Latest revision as of 09:20, 27 March 2020
Genetic Terms (expand to view) | ||
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genetic abnormalities | Molecular Development | meiosis | mitosis
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