A highly sensitive, high-throughput assay for the detection of Turner syndrome.

ABSTRACT:

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-

SUBMITTER: Rivkees SA 

PROVIDER: S-EPMC3047225 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature