Format

Send to

Choose Destination
See comment in PubMed Commons below
Hum Genet. 1997 Nov;101(1):43-6.

Codon-usage variants in the polymorphic (GGN)n trinucleotide repeat of the human androgen receptor gene.

Author information

1
Lady Davis Institute, Montreal, Quebec, Canada.

Abstract

The human androgen receptor gene (hAR) has a long, polymorphic trinucleotide (GGN; glycine)n repeat in the 3' portion of its first exon, with n = 10-31. Owing to technical difficulties that have precluded routine sequencing of this region, it is widely unknown that N represents T, G or C, and that the usual sense codon sequence of the GGN tract is (GGT)3GGG(GGT)2(GGC)4-25. Furthermore, on 4 of 61 X chromosomes, we observed that the internal GGT sequence was present three or four times instead of twice. Strikingly, each of the three alleles with an internal (GGT)3, and only these three, also had a (GGC)20 repeat. The size or composition of a (GGN)n repeat was not correlated with the length of the accompanying (CAG)nCAA repeat in the 5' portion of exon one. Hence, codon-usage variants of the GGN tract may be used to seek associations with particular diseases, as diagnostic aids in families with androgen insensitivity whose AR mutations have not yet been identified, or as internal controls for observations on intergenerational contractions or expansions of the (CAG)nCAA tract in a given hAR allele.

PMID:
9385367
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center