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Carrier (genetics)
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait. Carriers in autosomal inheritances Autosomal dominant-recessive inheritance is made possible by the fact that the individuals of most species (including all higher animals and plants) have two alleles of most hereditary predispositions because the chromosomes in the cell nucleus are usually present in pairs (diploid). Carriers can be female or male as the autosomes are homologous independently from the sex. In carriers the expression of a certain characteristic is recessive. The individual has both a genetic predisposition for the dominant trait and a genetic predisposition for the recessive trait, and the dominant expression prevails in the p ...
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Autosomal Recessive Inheritance - Carriers
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome e ...
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Homozygous
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some gen ...
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Jane B
Jane may refer to: * Jane (given name), a feminine given name * Jane (surname), related to the given name Film and television * ''Jane'' (1915 film), a silent comedy film directed by Frank Lloyd * ''Jane'' (2016 film), a South Korean drama film starring Lee Min-ji * ''Jane'' (2017 film), an American documentary film about Jane Goodall * ''Jane'' (2022 film), an American psychological thriller directed by Sabrina Jaglom * Jane (TV series), an 1980s British television series Music * ''Jane'' (album), an album by Jane McDonald * Jane (American band) * Jane (German band) * Jane, unaccompanied and original singer of "It's a Fine Day" in 1983 Songs * "Jane" (Barenaked Ladies song), 1994 * "Jane", a song by Ben Folds Five from their 1999 album ''The Unauthorized Biography of Reinhold Messner'' * "Jane" (Century song) * "Jane", a song by Elf Power * "Jane", a song by EPMD from '' Strictly Business'' * "Jane" (Jefferson Starship song), 1979 * "Jane", a song by the Loved Ones fro ...
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Neil A
Neil is a masculine name of Gaelic and Irish origin. The name is an anglicisation of the Irish ''Niall'' which is of disputed derivation. The Irish name may be derived from words meaning "cloud", "passionate", "victory", "honour" or "champion".. As a surname, Neil is traced back to Niall of the Nine Hostages who was an Irish king and eponymous ancestor of the Uí Néill and MacNeil kindred. Most authorities cite the meaning of Neil in the context of a surname as meaning "champion". Origins The Gaelic name was adopted by the Vikings and taken to Iceland as ''Njáll'' (see Nigel). From Iceland it went via Norway, Denmark, and Normandy to England. The name also entered Northern England and Yorkshire directly from Ireland, and from Norwegian settlers. ''Neal'' or ''Neall'' is the Middle English form of ''Nigel''. As a first name, during the Middle Ages, the Gaelic name of Irish origins was popular in Ireland and later Scotland. During the 20th century ''Neil'' began to be used in Engl ...
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Haemophilia
Haemophilia, or hemophilia (), is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with a mild case of the disease may have symptoms only after an accident or during surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or a decreased level of consciousness. There are two main types of haemophilia: haemophilia A, which occurs due to low amounts of clotting factor VIII, and haemophilia B, which occurs due to low levels of clotting factor IX. They are typically inherited from one's parents through an X chromosome carrying a nonfunctional gene. Rarely a new mutation may occur during early development or haemophilia may develop later in life due to antibodies forming against ...
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Color Blindness
Color blindness or color vision deficiency (CVD) is the decreased ability to color vision, see color or differences in color. It can impair tasks such as selecting ripe fruit, choosing clothing, and reading traffic lights. Color blindness may make some academic activities more difficult. However, issues are generally minor, and the colorblind automatically develop adaptations and coping mechanisms. People with achromatopsia, total color blindness (achromatopsia) may also be Hemeralopia, uncomfortable in bright environments and have visual impairment, decreased visual acuity. The most common cause of color blindness is an Heredity, inherited problem or variation in the functionality of one or more of the three classes of cone cells in the retina, which mediate color vision. The most common form is caused by a genetic disorder called congenital red–green color blindness. Males are more likely to be color blind than females, because the genes responsible for the most common for ...
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Sex Linkage
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ...
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Woman
A woman is an adult female human. Prior to adulthood, a female human is referred to as a girl (a female child or adolescent). The plural ''women'' is sometimes used in certain phrases such as "women's rights" to denote female humans regardless of age. Typically, women inherit a pair of X chromosomes, one from each parent, and are capable of pregnancy and giving birth from puberty until menopause. More generally, sex differentiation of the female fetus is governed by the lack of a present, or functioning, SRY-gene on either one of the respective sex chromosomes. Female anatomy is distinguished from male anatomy by the female reproductive system, which includes the ovaries, fallopian tubes, uterus, vagina, and vulva. A fully developed woman generally has a wider pelvis, broader hips, and larger breasts than an adult man. Women have significantly less facial and other body hair, have a higher body fat composition, and are on average shorter and less muscular than men. Throu ...
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X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ...
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Gonosome
A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. Most organisms that create their offspring using sexual reproduction have two sexes. In some species there are hermaphrodites. There are also some species that are only one sex due to parthenogenesis, the act of a female reproducing without fertilization. In some species, sex determination is genetic: males and females have different alleles or even different genes that specify their sexual morphology. In animals this is often accompanied by chromosomal differences, generally through combinations of XY, ZW, XO, ZO chromosomes, or haplodiploidy. The sexual differentiation is generally triggered by a main gene (a "sex locus"), with a multitude of other genes following in a domino effect. In other cases, sex of a fetus is determined by environmental variables (such as temperature). The details of some sex-determination systems are not yet fully understo ...
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Human Genetics
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: medical genetics. Genetic differences and inheritance patterns Inheritance of traits for humans are based upon Gregor Mendel's model of inheritance. Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes. Autosomal dominant inheritance Autosomal tr ...
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