摘要：Abstract Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. {CAH} is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel. The commonly used immunological {NBS} test is associated with a high false positive rate and there is interest in developing second-tier assays to increase screening specificity. Approximately 90% of the classic forms of CAH, salt-wasting and simple virilizing, are due to mutations in the {CYP21A2} gene. These include single nucleotide changes, insertions, deletions, as well as chimeric genes involving {CYP21A2} and its highly homologous pseudogene CYP21A1P. A novel loci-specific {PCR} approach was developed to individually amplify the {CYP21A2} gene, the nearby {CYP21A1P} pseudogene, as well as any 30 kb deletion and gene conversion mutations, if present, as single separate amplicons. Using commercially available {CAH} positive specimens and 14 families with an affected {CAH} proband, the single long-range amplicon approach demonstrated higher specificity as compared to previously published methods.
关键词：Congenital adrenal hyperplasia; CYP21A2; DNA sequence; Mutation analysis
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