Abstract:
:X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated whether the androgen receptor gene on the proximal long arm of the X chromosome is a candidate gene for this disease. In patient samples we found androgen receptor gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region. These amplified repeats were absolutely associated with the disease, being present in 35 unrelated patients and none of 75 controls. They segregated with the disease in 15 families, with no recombination in 61 meioses (the maximum log likelihood ratio (lod score) is 13.2 at a recombination rate of 0). The association is unlikely to be due to linkage disequilibrium, because 11 different disease alleles were observed. We conclude that enlargement of the CAG repeat in the androgen receptor gene is probably the cause of this disorder.
journal_name
Naturejournal_title
Natureauthors
La Spada AR,Wilson EM,Lubahn DB,Harding AE,Fischbeck KHdoi
10.1038/352077a0subject
Has Abstractpub_date
1991-07-04 00:00:00pages
77-9issue
6330eissn
0028-0836issn
1476-4687journal_volume
352pub_type
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