完全雄激素不敏感综合征的遗传咨询:三核苷酸重复多态性、单链构象多态性和雄激素受体基因两种新突变的直接检测。
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戴维斯HR，休斯IA，帕特森MN
完全雄激素不敏感综合征的遗传咨询:三核苷酸重复多态性、单链构象多态性和雄激素受体基因两种新突变的直接检测。
中国性(Oxf)。1995年7月,43(1):69 - 77。
- PubMed ID
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7641413 (在PubMed］
- 摘要
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目的:雄激素不敏感综合征是一种男性性发育障碍，它导致46XY具有功能睾丸的个体不同程度的男子气概不足。在最严重的情况下，完全雄激素不敏感综合征(CAIS)，患者具有正常的女性外观。尽管CAIS不会危及生命，但受影响的患者是不孕的，需要咨询、性腺切除术、激素治疗，有时还需要阴道成形术。因此，许多家庭要求遗传咨询。雄激素受体基因缺陷造成了CAIS的大部分(如果不是全部)病例。本研究的目的是评估使用雄激素受体基因第一外显子的多谷氨酰胺和多甘氨酸三核苷酸重复多态性来确定三个CAIS家族的携带者状态。在其中的两个家族中，发现了雄激素受体基因的新突变，从而确认了其中一个家族的携带者身份，并进行了产前诊断。患者:研究了三个CAIS家族。指标病例均表现出典型CAIS的临床表型。测量:最初对家庭成员进行聚谷氨酰胺重复分型。 In one family this was not informative and the polyglycine repeat was therefore studied. In this and one further family, the androgen receptor gene was sequenced to identify the mutation causing the CAIS. RESULTS: On the basis of information from trinucleotide repeat analysis carrier status could be assessed in each family. In one family, evidence for somatic instability of the polyglutamine repeat was found. In the same family, a novel mutation in the androgen receptor gene, which substituted valine for leucine 881, was identified. Other family members were subsequently typed for the mutation and a prenatal diagnosis was performed. A novel mutation was also identified in a second family substituting the glycine codon at position 371 with a stop codon. Other family members were typed for this mutation. CONCLUSIONS: Both the polyglutamine and polyglycine repeat polymorphisms are useful for the genetic counselling of complete androgen insensitivity syndrome families. In some cases, however, where the family history is limited, more precise information can be provided only once the androgen receptor mutation causing the complete androgen insensitivity syndrome has been identified.