High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency 英文参考文献.docVIP

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High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency 英文参考文献.doc

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High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency 英文参考文献

HighFrequencyofCopyNumberVariationsand SequenceVariantsatCYP21A2Locus:Implicationforthe GeneticDiagnosisof21-HydroxylaseDeficiency SilviaParajes1,CelsaQuinteiro1,FernandoDom?′nguez1,2,LourdesLoidi1* 1Fundacio′n Pu′blica Galega de Medicina Xeno′mica (Unidad de Medicina Molecular), Hospital Cl?′nico Universitario, Santiago de Compostela, A Corun?a, Spain, 2DepartamentodeFisiolog?′a,UniversidaddeSantiagodeCompostela,SantiagodeCompostela,ACorun?a,Spain Abstract Background: The systematic study of the human genome indicates that the inter-individual variability is greater than expectedanditisnotonlyrelatedtosequencepolymorphismsbutalsotogenecopynumbervariants(CNVs).Congenital AdrenalHyperplasiadueto21-hydroxylasedeficiency(21OHD)isthemostcommonautosomalrecessivedisorderwitha carrierfrequencyof1:25to1:10.Thegenethatencodes21-hydroxylaseenzyme,CYP21A2,isconsideredtobeoneofthe most polymorphic human genes. Copy number variations, such as deletions, which are severe mutations common in 21OHD patients, or gene duplications, which have been reported as rare events, have also been described. The correct characterizationof21OHDallelesisimportantfordiseasecarrierdetectionandgeneticcounselling MethodologyandFindings:CYP21A2genotypingbysequencinghasbeenperformedinarandomsampleoftheSpanish population, where 144 individuals recruited from university students and employees of the hospital were studied. The frequencyofCYP21A2mutatedallelesinoursamplewas15.3%(77.3%weremildmutations,9%wereseveremutationsand 13.6%werenovelvariants).GenedosageassessmentwasalsoperformedwhenCYP21A2geneduplicationwassuspected. Thisanalysisshowedthat7%ofindividualsboreachromosomewithaduplicatedCYP21A2gene,whereoneofthecopies wasmutated. Conclusions: As far as we know, the present study has shown the highest frequency of 21OHD carriers reported by a genotypinganalysis.Inaddition,ahighfrequencyofalleleswithCYP21A2duplications,whichcouldbemisinterpretedas 21OHD alleles, was found. Moreover, a high frequency of