| A highly sensitive, high-throughput assay for the detection of Turner syndrome. | |
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MedLine Citation:
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PMID: 21177792 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: Turner syndrome (TS) occurs when an X-chromosome is completely or partially deleted or when X-chromosomal mosaicism is present. Girls with TS benefit from early diagnosis and treatment with GH; however, many girls with TS are not detected until after 10 yr of age, resulting in delayed evaluation and treatment. METHODS: We developed a high-throughput test for TS, based on a quantitative method of genotyping to detect X-chromosome abnormalities. This test uses pyrosequencing to quantitate relative allele strength (RAS) from single-nucleotide polymorphisms using 18 informative single-nucleotide polymorphisms markers that span the X-chromosome and one marker for the detection of Y-chromosome material. RESULTS: Cutoff ranges for heterozygous, homozygous, or out-of-range RAS values were established from a cohort of 496 males and females. Positive TS scoring criteria were defined as the presence of homozygosity for all 18 markers or the presence of at least one out-of-range RAS value. To determine the validity of this rapid test for TS detection, we undertook a large-scale study using DNA from 132 females without TS and 74 females with TS for whom karyotypes were available. TS was identified with 96.0% sensitivity and 97.0% specificity in this cohort. We also tested buccal swab DNA from a group of 19 females without TS and 69 females with TS. In this group, TS was identified with 97.1% sensitivity and 84.2% specificity. CONCLUSIONS: These results demonstrate the validity of a high-throughput, pyrosequencing based test for the accurate detection of TS, providing a potential alternative to karyotype testing. |
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Authors:
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Scott A Rivkees; Karl Hager; Seiyu Hosono; Anastasia Wise; Peining Li; Henry M Rinder; Jeffrey R Gruen |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural Date: 2010-12-22 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 96 ISSN: 1945-7197 ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-03-07 Completed Date: 2011-05-23 Revised Date: 2012-09-18 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
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Languages: eng Pagination: 699-705 Citation Subset: AIM; IM |
Affiliation:
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Yale Child Health Research Center, Yale University School of Medicine, 464 Congress Avenue, New Haven, Connecticut 06520, USA. Scott.Rivkees@Yale.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Chromosomes, Human, X / genetics Chromosomes, Human, Y / genetics Cohort Studies DNA / genetics Female Genotype High-Throughput Screening Assays Homozygote Humans Karyotyping Male Mouth Mucosa / chemistry Polymorphism, Single Nucleotide Reproducibility of Results Turner Syndrome / diagnosis*, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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R42HD049230/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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9007-49-2/DNA |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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