Donti E, Nicoletti I, Filipponi P, Venti G, Bocchini V, Santeusanio F
J Med Genet. 1982 Oct;19(5):349-53. doi: 10.1136/jmg.19.5.349.
3H-DHT binding was examined in cultured skin fibroblasts from a patient with complete testicular feminisation (CTF), from his heterozygote mother, and his clinically normal sister, who menstruated normally. Binding parameters were: Bmax less than 1 fmol/mg protein and KD unmeasurable in CTF; Bmax = 24 fmol/mg protein and KD = 3.63 X 10(-9) mol/l in the mother; and Bmax = 46 fmol/mg protein and KD = 3.7 X 10(-9) mol/l in the sister. Five cultures obtained from genital and non-genital skin of normal male and female subjects were used as controls, in which Bmax ranged from 37 to 62 fmol/mg and KD from 2.0 to 3.6 X 10(-9) mol/l. The considerable reduction of Bmax in the obligate heterozygote and the normal binding capacity in the sister, a probable heterozygote, suggests that it may be possible to use the DHT-receptor assay to identify carriers in families with androgen resistance.
对一名完全性睾丸女性化（CTF）患者、其杂合子母亲以及月经正常的临床正常姐妹的培养皮肤成纤维细胞进行了3H -双氢睾酮（3H - DHT）结合检测。结合参数如下：CTF患者中，最大结合容量（Bmax）小于1 fmol/mg蛋白质，解离常数（KD）无法测定；母亲的Bmax = 24 fmol/mg蛋白质，KD = 3.63×10⁻⁹ mol/L；姐妹的Bmax = 46 fmol/mg蛋白质，KD = 3.7×10⁻⁹ mol/L。从正常男性和女性受试者的生殖器和非生殖器皮肤获取的五种培养物用作对照，其中Bmax范围为37至62 fmol/mg，KD为2.0至3.6×10⁻⁹ mol/L。在必然杂合子中Bmax显著降低，而在可能为杂合子的姐妹中结合能力正常，这表明有可能利用双氢睾酮受体检测来识别雄激素抵抗家族中的携带者。
