Lobaccaro J M, Belon C, Ruiz-Pacheco R, Heinrichs C, Van Regemorter N, Terraza A, Sultan C
INSERM U58 (Biochimie des Stéroïdes), Montpellier, France.
Ann Genet. 1991;34(1):9-13.
Partial androgen insensitivity syndrome (PAIS) is an X-linked disorder resulting from defects in the intracellular androgen receptor (AR). The cloning of the AR cDNA has provided the molecular tools to identify gene abnormalities. Gene deletions being the exception in PAIS, prenatal diagnosis of PAIS resulting from a single base mutation in high risk families is not practical unless the mutation is already known. Brown et al. (1989) reported that 10% of normal X chromosomes present a Hind III 6.7/3.5 kb polymorphism. In this study, we report the association of the Hind II polymorphism in a woman whose son has a PAIS associated with a very low androgen receptor concentration: we differentiated the two maternal X chromosomes and characterized the affected allele. These data demonstrate that the presence of Hind III polymorphic fragments could be used in prenatal diagnosis of androgen insensitivity syndrome in high risk families.
部分雄激素不敏感综合征（PAIS）是一种X连锁疾病，由细胞内雄激素受体（AR）缺陷引起。AR cDNA的克隆提供了识别基因异常的分子工具。基因缺失在PAIS中是例外情况，除非已知突变，否则在高危家庭中对由单个碱基突变导致的PAIS进行产前诊断并不实际。Brown等人（1989年）报告称，10%的正常X染色体存在Hind III 6.7/3.5 kb多态性。在本研究中，我们报告了一位女性的Hind II多态性关联，该女性的儿子患有与极低雄激素受体浓度相关的PAIS：我们区分了两条母源X染色体并对受影响的等位基因进行了特征分析。这些数据表明，Hind III多态性片段的存在可用于高危家庭中雄激素不敏感综合征的产前诊断。
