![]() For methylation studies, we treated the extracted gDNA from 16 HSCR patients’ and 17 control colons with sodium bisulfate and analyzed the methylation pattern of NRG1 exon 1 with methylation-specific PCR. This cross-sectional study determined NRG1 type I ( HRGα, HRGβ1, HRGβ2, HRGβ3, HRGγ, and NDF43 isoforms), type II and type III expressions in both ganglionic and aganglionic colons of 20 patients with HSCR and 10 control colons by real-time polymerase chain reaction (qPCR). Here, we investigated the impact of NRG1 expressions and methylation patterns on the pathogenesis of HSCR. A current study showed that the NRG1 rare variant frequency in Indonesian patients with HSCR is only 0.9%. Hirschsprung disease (HSCR) is a complex genetic disorder characterized by the lack of ganglion cells in the intestines.
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