title: Related individuals with different androgen receptor gene deletions.
abstract: We have identified different members of one family affected by androgen insensitivity syndrome who have deletions of different exons of the X-linked androgen receptor (AR) gene. Two affected (XY) siblings have a deletion of exon E of the AR gene and their affected (XY) aunt has a normal exon E, but a deletion of exons F and G of the same gene. The mother and maternal grandmother of the children both carry the exon E deletion, but not the exon F, G deletion. Both deletions are 5 kb in length and have one breakpoint within a 200-bp region in intron 5; however, they extend in opposite directions. The probability that these two different deletions have arisen at random is extremely low, but the cause of this intriguing phenomenon remains to be found.
authors.affiliation: Centre for Child Growth and Hormone Research, Royal Children's Hospital, Parkville, Australia.
authors.forename: H E
authors.initials: HE
authors.lastname: MacLean
authors.forename: S
authors.initials: S
authors.lastname: Chu
authors.forename: G L
authors.initials: GL
authors.lastname: Warne
authors.forename: J D
authors.initials: JD
authors.lastname: Zajac
mesh_terms: D000328:Adult; D001483:Base Sequence; D002478:Cells, Cultured; D002648:Child; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D007438:Introns; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011944:Receptors, Androgen / Q000235:genetics*; D012016:Reference Values; D015183:Restriction Mapping; D012867:Skin / Q000378:metabolism; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D009838:Oligodeoxyribonucleotides; D011944:Receptors, Androgen; D004247:DNA