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Screening The Pathogenic Gene Of Hypospadias Based On Whole Exome Sequencing Technology

Posted on:2016-06-27Degree:MasterType:Thesis
Country:ChinaCandidate:C C LiFull Text:PDF
GTID:2334330503494518Subject:Pediatrics - Pediatric Surgery
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Background and ObjectiveScreening the pathogenic gene of hypospadias based on the collected samples,with the using of the next-generation sequencing technologyMethodsCollect 4 group of families with children of hypospadias(two groups of them have more than one kid, one of those is with mild hypospadias; another two groups have only one kid of severe hypospadias). All the sample involved are tested and analyzed with Whole Exome Sequencing.ResultsWe can get two lists of suspicious pathogenic gene through the analyzing of samples with mild hypospadias. However the analysis of two group with severe hypospadias shows SRD5A2(Steroid 5-alpha-reductase) might be the most suspected gene which could lead to the hypospadias.ConclusionsThere are a variety of pathogenic genes that could lead to hypospadias, of which the SRD5A2 might be associated with severe hypospadias.
Keywords/Search Tags:hypospadias, Whole Exome Sequencing technology, Next Generation Sequencing, SRD5A2(Steroid 5-alpha-reductase)
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