کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8476450 1550810 2018 39 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
New technologies to uncover the molecular basis of disorders of sex development
ترجمه فارسی عنوان
فن آوری های جدید برای کشف مبنای مولکولی اختلالات رشد جنس
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
چکیده انگلیسی
The advent in the clinical realm of next-generation sequencing methods, with constantly decreasing price and turnaround time, has revolutionized the diagnostic process. Here we review the successes and limitations of the genetic methods currently available for DSD diagnosis, including Sanger sequencing, karyotyping, exome sequencing and chromosomal microarrays. While exome sequencing provides higher diagnostic rates, many patients still remain undiagnosed. Newer approaches, such as whole-genome sequencing and whole-genome mapping, along with gene expression studies, have the potential to identify novel DSD-causing genes and significantly increase total diagnostic yield, hopefully shortening the patient's journey to an accurate diagnosis and enhancing health-related quality-of-life outcomes for patients and families.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular and Cellular Endocrinology - Volume 468, 15 June 2018, Pages 60-69
نویسندگان
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