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An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
We have discovered in the X-linked androgen receptor gene a single exonic nucleotide substitution that causes complete androgen insensitivity (resistance) in a sibship with three affected individuals. The mutation, a guanine-to-adenine transition, occurs at nucleotide number 2682 and changes the sen...
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| Հիմնական հեղինակներ: | , , , , , , , , , , , |
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| Ձևաչափ: | Հոդված |
| Լեզու: | English |
| Հրապարակվել է: |
1990
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| Խորագրեր: | |
| Առցանց հասանելիություն: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683844/ https://ncbi.nlm.nih.gov/pubmed/2339702 |
| Ցուցիչներ: |
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| Ամփոփում: | We have discovered in the X-linked androgen receptor gene a single exonic nucleotide substitution that causes complete androgen insensitivity (resistance) in a sibship with three affected individuals. The mutation, a guanine-to-adenine transition, occurs at nucleotide number 2682 and changes the sense of codon 717 from tryptophan to a translation stop signal. Codon 717 is in exon 4, so the mutation predicts the synthesis of a truncated receptor that lacks most of its androgen-binding domain. The substitution abolishes a recognition sequence for the restriction endonuclease HaeIII. Amplification of exon 4 by the polymerase chain reaction followed by double digestion with HinfI and HaeIII permits facile recognition of hemizygotes and heterozygous carriers of the mutation. |
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