雄激素不敏感综合征家系遗传学分析与产前诊断

发布时间：2018-03-03 02:19

本文选题：雄激素不敏感综合征　切入点：雄激素受体　出处：《中国实用妇科与产科杂志》2017年06期 　论文类型：期刊论文

【摘要】：目的探讨雄激素不敏感综合征(AIS)患者的雄激素受体(AR)基因突变情况以及相应的遗传咨询和产前诊断。方法应用染色体G显带核型分析技术、基因测序技术检测2013年云南省第一人民医院遗传诊断中心产前诊断的1例AIS患者及家系部分成员的AR基因,然后进行遗传学分析。结果核型分析显示先证者和胎儿的染色体核型为46,XY,先证者检出AR基因第4外显子2069-2071del ACG,母亲为AR基因缺失的携带者。该突变造成AR基因的691位氨基酸(天冬氨酸)的缺失,最后编码了918个氨基酸的截短AR蛋白。正常人群中未发现该突变。结论通过对家系成员的临床遗传学分析确定了1种AR基因病理性新突变,AR基因缺失691位氨基酸(天冬氨酸)的截短突变可引起完全型雄激素不敏感综合征。通过遗传咨询和基因检测,可对该家系做出准确的产前诊断。
[Abstract]:Objective to investigate the mutation of androgen receptor ARN gene in patients with androgen insensitive syndrome (AIS) and the corresponding genetic counseling and prenatal diagnosis. Gene sequencing technique was used to detect AR gene in a patient with AIS and some family members diagnosed in 2013 at the genetic diagnosis Center of the first people's Hospital of Yunnan Province. Results karyotype analysis showed that the karyotype of the proband and fetus was 46 XY, the proband detected AR gene exon 2069-2071del ACGand the mother was the carrier of AR gene deletion. The mutation resulted in 691 of AR gene. Loss of amino acid (aspartic acid), The truncated AR protein encoding 918 amino acids was not found in the normal population. Conclusion A new pathological mutation of AR gene, the deletion of 691 amino acids in AR gene, was identified by clinical genetic analysis of family members. Truncated mutations (aspartic acid) can cause complete androgen insensitivity syndrome. Accurate prenatal diagnosis can be made for the family.
【作者单位】：云南省第一人民医院遗传诊断中心出生缺陷与遗传病研究重点实验室;云南省第一人民医院泌尿外科;
【基金】：云南省领军人才(L-201201) 云南省卫生和计划生育委员会医学学科带头人计划(D-201643)
【分类号】：R440;R714.5

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