• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>The journal of sexual medicine >A Novel Nonsense Mutation in HSD17B3 Gene in a Tunisian Patient with Sexual Ambiguity
【24h】

A Novel Nonsense Mutation in HSD17B3 Gene in a Tunisian Patient with Sexual Ambiguity

机译：突尼斯患者性歧义性HSD17B3基因的新型无意义突变。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Introduction. 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) isoenzyme is present almost exclusively in the testes and converts delta 4 androstenedione to testosterone. Mutations in the HSD17B3 gene cause HSD17B3 deficiency and result in 46,XY Disorders of Sex Development (46,XY DSD). Aim. This study aimed to present the clinical and biochemical features of a Tunisian patient who presented a sexual ambiguity orienting to HSD17B3 deficiency and to search for a mutation in the HSD17B3 gene by DNA sequencing. Methods. Polymerase chain reaction (PCR) amplification and subsequent sequencing of all the coding exons of HSD17B3 gene were performed on genomic DNA from the patient, her family, and 50 controls. Results. Genetic mutation analysis of the HSD17B3 gene revealed the presence of a novel homozygous nonsense mutation in the exon 9 (c.618 C>A) leading to the substitution p.C206X. The mutation p.C206X in the coding exons supports the hypothesis of HSD17B3 deficiency in our patient. Conclusion. The patient described in this study represented a new case of a rare form of 46,XY DSD, associated to a novel gene mutation of HSD17B3 gene. The screening of this mutation is useful for confirming the diagnosis of HSD17B3 deficiency and for prenatal diagnosis.
机译：介绍。 17β-羟基甾体3型脱氢酶（HSD17B3）同工酶几乎只存在于睾丸中，并将δ4雄烯二酮转化为睾丸激素。 HSD17B3基因的突变会导致HSD17B3缺乏，并导致性发育的46，XY障碍（46，XY DSD）。目标。这项研究旨在介绍突尼斯患者的临床和生化特征，该患者表现出针对HSD17B3缺乏症的性歧义，并通过DNA测序寻找HSD17B3基因的突变。方法。 HSD17B3基因的所有编码外显子的聚合酶链反应（PCR）扩增和随后的测序均在来自患者，其家人和50位对照的基因组DNA上进行。结果。 HSD17B3基因的遗传突变分析显示外显子9（c.618 C> A）中存在一个新的纯合性无义突变，导致了p.C206X的取代。编码外显子中的p.C206X突变支持我们患者中HSD17B3缺乏的假说。结论。该研究中描述的患者代表了一种罕见的46，XY DSD形式的新病例，与HSD17B3基因的新基因突变有关。该突变的筛选对于确认HSD17B3缺乏症的诊断和产前诊断是有用的。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号