DMD is an X-linked disorder
that only affects males.
Choroideremia is an X-linked disorder
, which means that it is caused by a faulty gene, called CHM, on the X chromosome.
7) However, two of the best-described forms of Kallman syndrome are inherited autosomal dominant and X-linked disorder
Hemophilia B is an X-linked disorder
resulting from a defect in the gene encoding human factor IX (FIX).
Classic haemophilia is an X-linked disorder
, with either a deficiency of factor VIII (haemophilia A), or of factor IX (haemophilia B) being inherited from the mother.
Johnson and his colleagues believe that if their method can be used to sort human sperm, it will eliminate some of the ethical dilemmas that crop up when researchers sort embryos to avoid an X-linked disorder
So far, they have been successful in identifying DNA from the Y chromosome, indicating that the foetus is a boy and therefore could be at risk of inheriting an X-linked disorder
such as Duchenne's muscular dystrophy and haemophilia.
Although the coding region of the GJB1 gene is only a single-exon gene, it allowed us to test and validate HRM as a gene-scanning method for an X-linked disorder
, in which all heterozygous female and homozygous male mutations were detected.
Fabry's disease is an X-linked disorder
of glycosphingolipid catabolism related to the defective activity of glycosphingolipid, mainly ceramide trihexoside, in the vascular smooth muscle, myocardium, cells of the sympathetic central nervous system, and epithelial cells of renal glomeruli.
Using VAAST to Identify an X-linked Disorder
Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency," American Journal of Human Genetics, published online June 23, 2011.
Abnormal genes that are located on X chromosomes result in X-linked disorders
, like haemophilia.
Most cases of CGD are inherited X-linked disorders
, although examples of autosomal recessive CGD are also seen.