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首页> 外文期刊>Journal of pediatric endocrinology & metabolism: JPEM >Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay
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Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay

机译:使用本地开发的基于5'核酸外切酶的测定法快速检测具有性别发育障碍的患者中SRY和DYS14基因的临床适用性

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摘要

Background: Life threatening conditions are associated with atypical genitalia in newborns. Analysis of genetic sex provides a clue to the underlying etiology in newborns with disorders of sex development (DSD) and can guide further endocrine investigations. Rapid diagnosis of genetic sex would be immensely useful in this situation. Traditionally used methods such as karyotype and fluorescence in situ hybridisation are time-consuming. Objectives: To study the clinical applicability of an indigenously developed rapid real-time polymerase chain reaction (RT-PCR) assay for the sex determining region on the Y chromosome (SRY gene) and the DYS14 locus in newborns with DSD. Methods: Clinical examination, endocrinological tests, RT-PCR analysis of SRY and DYS14 and karyotype was performed in 15 newborns with DSD. Results: Results of PCR were available within 4 h. Based on this report, in SRY/DYS14 positive cases, further tests for assessment of testicular function were done. In SRY negative cases, tests for congenital adrenal hyperplasia were done. On comparing PCR results with other tests, the Y chromosome was present on karyotype and testicular tissue was detected by endocrinological and/or histological methods in all (8/15) SRY positive cases. The SRY and DYS14 negative cases (7/15) did not have Y chromosome in the karyotype. Congenital adrenal hyperplasia (CAH) was the most common diagnosis in this group. Conclusions: The indigenously developed PCR for dual Y chromosome markers is rapid and sensitive. Further endocrine evaluation of newborns with DSD can be based on these results. Information of genetic sex partly allays the psychosocial distress associated with the condition.
机译:背景:危及生命的状况与新生儿的非典型生殖器有关。基因性别的分析为具有性发育障碍(DSD)的新生儿提供了潜在的病因学线索,并且可以指导进一步的内分泌研究。在这种情况下,快速诊断遗传性将非常有用。传统使用的方法(例如核型和荧光原位杂交)非常耗时。目的:研究本地开发的快速实时聚合酶链反应(RT-PCR)测定法在DSD新生儿Y染色体上的性别决定区域(SRY基因)和DYS14基因座的临床适用性。方法:对15例DSD新生儿进行了临床检查,内分泌检查,RT-PCR分析SRY和DYS14及核型。结果:PCR结果可在4小时内获得。根据此报告,在SRY / DYS14阳性病例中,进行了进一步的测试以评估睾丸功能。在SRY阴性病例中,进行了先天性肾上腺增生的测试。通过将PCR结果与其他检测结果进行比较,在所有(8/15)SRY阳性病例中,Y型染色体均存在于染色体核型中,并且通过内分泌和/或组织学方法检测到睾丸组织。 SRY和DYS14阴性病例(7/15)在核型中没有Y染色体。先天性肾上腺皮质增生(CAH)是该组中最常见的诊断。结论:本地开发的双Y染色体标记PCR快速,灵敏。可以基于这些结果对DSD新生儿进行进一步的内分泌评估。遗传性别信息可以部分缓解与病情相关的社会心理困扰。

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