α-fetoprotein
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α-fetoprotein
Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein that in humans is encoded by the ''AFP'' gene. The ''AFP'' gene is located on the ''q'' arm of chromosome 4 (4q25). Maternal AFP serum level is used to screen for Down syndrome, neural tube defects, and other chromosomal abnormalities. AFP is a major plasma protein produced by the yolk sac and the fetal liver during fetal development. It is thought to be the fetal analog of serum albumin. AFP binds to copper, nickel, fatty acids and bilirubin and is found in monomeric, dimeric and trimeric forms. Structure AFP is a glycoprotein of 591 amino acids and a carbohydrate moiety. Function The function of AFP in adult humans is unknown. AFP is the most abundant plasma protein found in the human fetus. Maternal plasma levels peak near the end of the first trimester, and begin decreasing prenatally at that time, then decrease rapidly after b ...
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Down Syndrome
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndrome pregnancies are often abor ...
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Testosterone
Testosterone is the primary sex hormone and anabolic steroid in males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testes and prostate, as well as promoting secondary sexual characteristics such as increased muscle and bone mass, and the growth of androgenic hair, body hair. In addition, testosterone in both sexes is involved in health and well-being, including moods, behaviour, and in the prevention of osteoporosis. Insufficient levels of testosterone in men may lead to abnormalities including frailty and bone loss. Testosterone is a steroid from the androstane class containing a ketone and a hydroxyl group at positions three and seventeen respectively. It is Biosynthesis, biosynthesized in several steps from cholesterol and is converted in the liver to inactive metabolites. It exerts its action through binding to and activation of the androgen receptor. In humans and most other vertebrates, testost ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ...
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Moiety (chemistry)
In organic chemistry, a moiety ( ) is a part of a molecule that is given a name because it is identified as a part of other molecules as well. Typically, the term is used to describe the larger and characteristic parts of organic molecules, and it should not be used to describe or name smaller functional groups of atoms that chemically react in similar ways in most molecules that contain them. Occasionally, a moiety may contain smaller moieties and functional groups. A moiety that acts as a branch extending from the backbone of a hydrocarbon molecule is called a substituent or side chain, which typically can be removed from the molecule and substituted with others. Active moiety In pharmacology, an active moiety is the part of a molecule or ion – excluding appended inactive portions – that is responsible for the physiological or pharmacological action of a drug substance. Inactive appended portions of the drug substance may include either the alcohol or acid moiety of ...
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Amniotic Fluid
The amniotic fluid is the protective liquid contained by the amniotic sac of a gravid amniote. This fluid serves as a cushion for the growing fetus, but also serves to facilitate the exchange of nutrients, water, and biochemical products between mother and fetus. For humans, the amniotic fluid is commonly called water or waters (Latin liquor amnii). Development Amniotic fluid is present from the formation of the gestational sac. Amniotic fluid is in the amniotic sac. It is generated from maternal plasma, and passes through the fetal membranes by osmotic and hydrostatic forces. When fetal kidneys begin to function around week 16, fetal urine also contributes to the fluid. In earlier times, it was believed that the amniotic fluid was composed entirely of fetal urine. The fluid is absorbed through the fetal tissue and skin. After 22 to 25 week of pregnancy, keratinization of an embryo's skin occurs. When this process completes around the 25th week, the fluid is primarily absor ...
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Blood
Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood in the circulatory system is also known as ''peripheral blood'', and the blood cells it carries, ''peripheral blood cells''. Blood is composed of blood cells suspended in blood plasma. Plasma, which constitutes 55% of blood fluid, is mostly water (92% by volume), and contains proteins, glucose, mineral ions, hormones, carbon dioxide (plasma being the main medium for excretory product transportation), and blood cells themselves. Albumin is the main protein in plasma, and it functions to regulate the colloidal osmotic pressure of blood. The blood cells are mainly red blood cells (also called RBCs or erythrocytes), white blood cells (also called WBCs or leukocytes) and platelets (also called thrombocytes). The most abundant cells in vertebrate blo ...
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Tumor Marker
A tumor marker is a biomarker found in blood, urine, or body tissues that can be elevated by the presence of one or more types of cancer. There are many different tumor markers, each indicative of a particular disease process, and they are used in oncology to help detect the presence of cancer. An elevated level of a tumor marker can indicate cancer; however, there can also be other causes of the elevation (false positive values). Tumor markers can be produced directly by the tumor or by non-tumor cells as a response to the presence of a tumor. Although mammography, ultrasonography, computed tomography, magnetic resonance imaging scans, and tumor marker assays help in the staging and treatment of the cancer, they are usually not definitive diagnostic tests. The diagnosis is mostly confirmed by biopsy. Classification On the basis of their chemical nature, tumor markers can be proteins, conjugated proteins, peptides and carbohydrates. Proteins or conjugated proteins may be enzy ...
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Amniocentesis
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman. The needle punctures the amnion, which is the membrane that surrounds the developing fetus. The fluid within the amnion is called amniotic fluid, and because this fluid surrounds the developing fetus, it contains fetal cells. The amniotic fluid is sampled and analyzed via methods such as karyotyping and DNA analysis technology for genetic abnormalities. An amniocentesis is typically performed in the second trimester between the 15th and 20th week of gestation. Women who choose to have this test are prima ...
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De Novo Synthesis
In chemistry, ''de novo'' synthesis () refers to the synthesis of complex molecules from simple molecules such as sugars or amino acids, as opposed to recycling after partial degradation. For example, nucleotides are not needed in the diet as they can be constructed from small precursor molecules such as formate and aspartate. Methionine, on the other hand, is needed in the diet because while it can be degraded to and then regenerated from homocysteine, it cannot be synthesized ''de novo''. Nucleotide ''De novo'' pathways of nucleotides do not use free bases: adenine (abbreviated as A), guanine (G), cytosine (C), thymine (T), or uracil (U). The purine ring is built up one atom or a few atoms at a time and attached to ribose throughout the process. Pyrimidine ring is synthesized as orotate and attached to ribose phosphate and later converted to common pyrimidine nucleotides. Cholesterol Cholesterol is an essential structural component of animal cell membranes. Cholestero ...
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Aromatase
Aromatase (), also called estrogen synthetase or estrogen synthase, is an enzyme responsible for a key step in the biosynthesis of estrogens. It is CYP19A1, a member of the cytochrome P450 superfamily, which are monooxygenases that catalyze many reactions involved in steroidogenesis. In particular, aromatase is responsible for the aromatization of androgens into estrogens. The enzyme aromatase can be found in many tissues including gonads (granulosa cells), brain, adipose tissue, placenta, blood vessels, skin, and bone, as well as in tissue of endometriosis, uterine fibroids, breast cancer, and endometrial cancer. It is an important factor in sexual development. Function Aromatase is localized in the endoplasmic reticulum where it is regulated by tissue-specific promoters that are in turn controlled by hormones, cytokines, and other factors. It catalyzes the last steps of estrogen biosynthesis from androgens (specifically, it transforms androstenedione to estrone and testoster ...
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XY Sex-determination System
The XY sex-determination system is a sex-determination system used to classify many mammals, including humans, some insects (''Drosophila''), some snakes, some fish (guppies), and some plants (''Ginkgo'' tree). In this system, the sex of an individual is determined by a pair of sex chromosomes. Females have two of the same kind of sex chromosome (XX), and are called the homogametic sex. Males have two different kinds of sex chromosomes (XY), and are called the heterogametic sex. In humans, the presence of the Y chromosome is responsible for triggering male development; in the absence of the Y chromosome, the fetus will undergo female development. There are various exceptions, such as individuals with Klinefelter syndrome (who have XXY chromosomes), Swyer syndrome (women with XY chromosomes), and XX male syndrome (men with XX chromosomes), however these exceptions are rare. In most species with XY sex determination, an organism must have at least one X chromosome in order to sur ...
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Anti-Müllerian Hormone
Anti-Müllerian hormone (AMH), also known as Müllerian-inhibiting hormone (MIH), is a glycoprotein hormone structurally related to inhibin and activin from the transforming growth factor beta superfamily, whose key roles are in growth differentiation and folliculogenesis. In humans, it is encoded by the gene, on chromosome 19p13.3, while its receptor is encoded by the gene on chromosome 12. AMH is activated by SOX9 in the Sertoli cells of the male fetus. Its expression inhibits the development of the female reproductive tract, or Müllerian ducts (paramesonephric ducts), in the male embryo, thereby arresting the development of fallopian tubes, uterus, and upper vagina. ''AMH'' expression is critical to sex differentiation at a specific time during fetal development, and appears to be tightly regulated by nuclear receptor SF-1, transcription GATA factors, sex-reversal gene DAX1, and follicle-stimulating hormone (FSH). Mutations in both the ''AMH'' gene and the type II AMH r ...
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