两个雄激素不敏感综合征家系中AR基因突变检测

发布时间：2018-06-01 14:15

本文选题：XY性发育异常 + 雄激素不敏感综合征　；参考：《郑州大学学报(医学版)》2015年02期

【摘要】：目的:对两个疑似雄激素不敏感综合征(AIS)家系进行基因诊断和其他临床相关检查,旨在发现其致病基因并进行遗传咨询。方法:对两个AIS家系的先证者及相关成员行体格检查、染色体核型分析、内分泌检测及超声检查后,提取外周血全基因组DNA,扩增位于X染色体上AR基因的8个外显子,扩增产物测序后与基因库中正常人的序列进行比对,查找是否存在致病突变。结果:两个AIS家系的先证者均检测到AR基因突变,分别为c.2042TC(p.681IT)和c.1822CT(p.608RX),家系中女性携带者中检测出了上述位点的杂合突变。家系1先证者行腹腔镜性腺切除术后证实性腺为睾丸。结论:AR基因的p.681IT和p.608RX是两个AIS家系患者的致病性突变;对AR基因进行基因检测是46,XY性发育异常,特别是AIS有效的诊断方式。
[Abstract]:Objective: to study the genetic diagnosis and other clinical tests of two families with suspected androgen insensitive syndrome (AIS) for the purpose of identifying the pathogenic genes and conducting genetic counseling. Methods: after physical examination, chromosome karyotype analysis, endocrine examination and ultrasound examination, eight exons of AR gene located on X chromosome were extracted from peripheral blood of the proband and related members of two AIS families. The amplified products were sequenced and compared with the sequences of normal individuals in the gene bank to find out if there were pathogenic mutations. Results: the mutation of AR gene was detected in two AIS families (c.2042TCCp681IT) and c.1822CTP608RXX. The heterozygosity of the above locus was detected in the female carriers of the two families. Family 1 proband underwent laparoscopic gonadectomy to confirm the testis. Conclusion the p.681IT and p.608RX of the two AIS families are pathogenicity mutations, and the detection of AR gene is an effective diagnostic method for 46 XY dysplasia, especially for AIS.
【作者单位】：郑州大学第一附属医院妇产科;郑州大学第一附属医院生物细胞治疗中心;
【基金】：河南省卫生厅中青年科技创新人才项目国家教育部出国留学人员科研启动金
【分类号】：R711.1

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