X-linked recessive


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X-linked recessive

Genetics adjective Referring to a mode of inheritance, in which a gene on the X chromosome requires one copy for phenotypic expression in ♂, but 2 copies for expression in ♀; with the gene only on the X chromosome, ♀ are carriers; ♂ get the disease. Cf Autosomal dominant, Autosomal recessive.

X-linked recessive

Pertaining to a gene situated on an X chromosome which is expressed if the chromosome is carried on both X chromosomes in a female (which is necessarily rare). In males, however, the Y chromosome carries little or no genetic material and does not contain the normal ALLELE, so the gene on the X chromosome will always manifest itself. An X-linked recessive condition will thus usually occur only in males (who have one X and one Y chromosome) but cannot be transmitted by a father to his son because the son receives only the Y chromosome. The characteristic is, however, transmitted via the daughters, who are carriers. Their sons have a 50/50 chance of acquiring the X chromosome and manifesting the characteristic.
References in periodicals archive ?
Making a molecular diagnosis in X-linked recessive disorders such as OTC is particularly important as it allows for prenatal screening and the detection of female carriers in the family.
Because BTHS, an X-linked recessive disorder with several mitochondrial dysfunctions (12), has been associated with a possible remodeling defect of CL (10), we used our method to establish a procedure for the identification of BTHS patients.
Hypohidrotic Ectodermal Dysplasia, X-Linked Recessive This is the most common type of ectodermal dysplasia; males are severely affected while females are carriers and very mildly affected.
1) As both conditions exhibit X-linked recessive inheritance, they are observed almost exclusively in males.
There are many causes of nephrogenic DI, including congenital (a familial X-linked recessive disorder), metabolic (hypercalcaemia, hypokalaemia), vascular (sickle cell disease), chronic renal disease (pyelonephritis, sarcoidosis) and iatrogenic (lithium, demeclocycline) (2).
Fabry's disease is an X-linked recessive disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme [alpha]-galactosidase A as a consequence of one or more than four dozen mutations.
Steroid sulfatase is responsible for an X-linked recessive ichthyosis (a corneocyte-retentive condition in which scales of keratin adhere to the skin).
They may be classified as autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive modes of inheritance.
This method for diagnosing fetal gender can be used as a pre-test to determine whether invasive prenatal diagnoses, such as amniocentesis and chorionic villi sampling, should be performed on a fetus having a risk of X-linked recessive inheritance.
It is an X-linked recessive disorder, which is more prevalent in males than in females.
MPS II is the only exception; it is an X-linked recessive disorder with a 1 in 2 chance of passing from a carrier mother to each of her male children.
Fabry disease is an X-linked recessive disorder caused by the deficient activity of [alpha]-galactosidase ([alpha]-Gal; EC 3.

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