Detection of GJB2 Gene Sequence Length in Patients with Nonsyndromic Deafness and Monoallelic GJB2 Gene Mutations
WANG Huibing
YU Fei
DAI Pu
SHAN Xizheng
YUAN Yongyi
ZHANG Xin
KANG Dongyang
HAN Dongyi
Abstract：Objective To detect whether or not does insertion or deletion of large fragment nucleotides exist in GJB2 gene for the NSHI (nonsyndromic hearing impairment) patients with monoallelic GJB2 Gene Mutations, and to study long chain PCR method and electrophoresis for the full sequence length of GJB2 gene. Methods We detected the sequence length of GJB2 gene for 201 patients with monoallelic GJB2 gene mutations and 111 cases of control group with normal hearing by long chain PCR method. The product amount of PCR was adjusted by the amount of the DNA template, the extension time and the cycles of PCR. The sequence length of PCR product of the GJB2 gene was detected by 0.8%agarose gel electrophoresis. To ob-tain a clear electrophoresis strip, we changed the width of the well, the volume of sample of PCR product, the electrophoresis voltage and current, electrophoresis time, etc. If the sequence length of PCR products had obviously increase or decrease, there could exist insertion or deletion of large fragment nucleotide in the GJB2 gene sequence. We determined the approximate loca-tion of the insertion or deletion by restriction enzyme reaction of BamHI enzyme. Results We didn’t detect obvious increase or decrease of the sequence length of GJB2 gene in 201 patients with monoallelic GJB2 gene mutations and in the control group. Conclusion Insertion or deletion of large fragment nucleotide in GJB2 gene sequence was not detected in NSHI pa-tients with monoallelic GJB2 gene mutations.
Keywords：Nonsyndromic hearing impairmentGJB2 geneMonoallelic mutationsSequence length
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 54-56 )