X linked disease - définition. Qu'est-ce que X linked disease
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Qu'est-ce (qui) est X linked disease - définition

THE SEX-SPECIFIC PATTERNS OF INHERITANCE AND PRESENTATION WHEN A GENE MUTATION IS PRESENT ON A SEX CHROMOSOME RATHER THAN A NON-SEX CHROMOSOME
Sex-linked; X-linked; X-linked gene; Sex linked; X linked; X linkage; X-and-Y linkage; X-linked manner; Sex-linked inheritance; Sex-influenced inheritance; X-Linked; Sex-influenced; Sex-influenced trait; X-linked trait; Sex-linked mutation; X-linked diseases; Sex-conditioned trait; Sex-linked gene; Sex-linked trait; X chromosome disorders; X-linked disease; Sex linked mutation; Sex linked genes; X-linked inheritance; Sex-linked genes
  • Morgan, Thomas Hunt]] 1919. ''The physical basis of heredity''. Philadelphia: J.B. Lippincott Company.</ref>
  • An example pedigree chart of the inheritance of a sex-linked disorder
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X-linked lymphoproliferative disease         
LYMPHOPROLIFERATIVE DISORDER
Duncan's disease; X-linked lymphoproliferative syndrome; Purtilo syndrome; XLP (hematology)
X-linked lymphoproliferative disease (also known as Duncan disease or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients.
X-linked Charcot-Marie-Tooth disease         
CHARCOT-MARIE-TOOTH DISEASE THAT HAS MATERIAL BASIS IN X-LINKED INHERITANCE OF A POINT MUTATION IN THE CONNEXIN-32 GENE
Draft:X-linked Charcot-Marie-Tooth disease; X-linked Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease is a group of genetic disorders and a type of Charcot-Marie-Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms.
X-linked dominant inheritance         
MODE OF INHERITANCE
X-linked dominance; X-linked dominant
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type.

Wikipédia

Sex linkage

Sex linked describes the sex-specific reading 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 father has a 50% chance of being affected, while a daughter has a 50% chance of being a carrier, however a fraction of carriers may display a milder (or even full) form of the condition due to a phenomenon known as skewed X-inactivation, in which the normal process of inactivating half of the female body's X chromosomes preferably targets a certain parent's X chromosome (the father's in this case). If the father is affected, the son will not be affected, as he does not inherit the father's X chromosome, but the daughter will always be a carrier (and may occasionally present with symptoms due to aforementioned skewed X-inactivation).

In X-linked dominant inheritance, a son or daughter born to an affected mother and an unaffected father both have a 50% chance of being affected (though a few X-linked dominant conditions are embryonic lethal for the son, making them appear to only occur in females). If the father is affected, the son will always be unaffected, but the daughter will always be affected. A Y-linked condition will only be inherited from father to son and will always affect every generation.

The inheritance patterns are different in animals that use sex-determination systems other than XY. In the ZW sex-determination system used by birds, the mammalian pattern is reversed, since the male is the homogametic sex (ZZ) and the female is heterogametic (ZW).

In classical genetics, a mating experiment called a reciprocal cross is performed to test if an animal's trait is sex-linked.