the gene is located at a locus in the chromosome.
the gene is located at a locus in the chromosome.
where is the gene located in the chromosome?
a locus
section::::genetics.









































section::::genetics.:gene.









































in humans, the androgen receptor is encoded by the "ar" gene located on the x chromosome at xq11-12.









































section::::genetics.:ar deficiencies.









































the androgen insensitivity syndrome, formerly known as testicular feminization, is caused by a mutation of the androgen receptor gene located on the x chromosome (locus:xq11-xq12).









































the androgen receptor seems to affect neuron physiology and is defective in kennedy's disease. in addition, point mutations and trinucleotide repeat polymorphisms has been linked to a number of additional disorders.









































section::::genetics.:cag repeats.
androgen receptor
a study conducted in 1998 found that congenital mesoblastic nephroma tissues taken from some patients contained an acquired mutation, the "etv6-ntrk3" fusion gene. this gene results from a translocation of genetic material from the "etv6" gene located on the short arm (designated p) of chromosome 12 at position p13.2 (i.e. 12p13.2) to the "ntrk3" gene located on the long arm (designated q) of chromosome 15 at position q25.3 (i.e. 15q25.3). this "etv6-ntrk3" gene fusion is notated as t(12;15)(p13;q25) and consists of the 5' end of "etv6" fused to the 3' end of "ntrk3". in consequence, the chimeric protein product of this gene lacks etv6 protein's transcription factor activity while having ntrk3 protein's tyrosine kinase in an unregulated and continuously active form. either event can drive the malignant growth of cells but in most cases the chimeric protein's tyrosine kinase activity appears responsible for doing so. based on a limited number of genetic studies (a total of 65 patients), the "ety6-ntrk3" fusion gene appears to occur in most cases of the cellular and some cases of the mixed but no cases of the classical types of congenital mesolastic nephroma. however, a more recent study of 19 patients detected the fused gene in all 8 cases of cellular, 5 of 6 cases of mixed, and 0 of 5 cases of classic mesoblastic nephroma. this suggests that expression of this fused gene may be more common in cellar and mixed mesoblastic nephroma than previously appreciated.
mesoblastic nephroma