Mahdieh Nejat, Raeisi Marzieh, Shirkavand Atefeh, Bagherian Hamideh, Akbari Mohammad Taghi, Zeinali Sirous
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Clin Lab. 2010;56(9-10):467-71.
Hearing loss is a serious sensory defect in the world. Mutations in the GJB2 and GJB6 genes are the major causes of autosomal recessive nonsyndromic hearing loss (NSHL). Recently, three major large deletions in the GJB6 gene including del(GJB6-D13S1830), del(GJB6-D13S1854), and a > 920 kb deletion have been reported to form double heterozygosity with GJB2. This may suggest that deletions involving GJB6 may be responsible for some NSHL.
We designed a real time SYBR green-based PCR to quantify a common deleted region in GJB6 gene. The amplified region covers the area which has been seen to be deleted in all of the above reports. We selected nine families heterozygous for different mutations in GJB2 gene to investigate the presence of deletions in the GJB6 gene. The samples were run along with controls for normal hearing and heterozygous and homozygous for GJB2 mutations to optimize our method. As a reference gene or external standard, a segment of the CLCN7 gene was also quantified as well.
We did not detect any deletion in the GJB6 gene.
Using this method, any deletion involving GJB6 gene can be detected in a rapid and sensitive way.
听力损失是全球范围内一种严重的感觉缺陷。GJB2和GJB6基因的突变是常染色体隐性非综合征性听力损失（NSHL）的主要原因。最近，据报道GJB6基因中的三个主要大片段缺失，包括del(GJB6-D13S1830)、del(GJB6-D13S1854)以及一个大于920 kb的缺失，会与GJB2形成双重杂合性。这可能表明涉及GJB6的缺失可能是某些NSHL的病因。
我们设计了一种基于SYBR Green的实时PCR来定量GJB6基因中的一个常见缺失区域。扩增区域覆盖了上述所有报道中出现缺失的区域。我们选择了九个GJB2基因杂合不同突变的家系，以研究GJB6基因中缺失的存在情况。样本与正常听力对照以及GJB2突变的杂合子和纯合子样本一起进行检测，以优化我们的方法。作为参考基因或外部标准，CLCN7基因的一个片段也进行了定量。
我们未检测到GJB6基因中的任何缺失。
使用这种方法，可以快速、灵敏地检测到任何涉及GJB6基因的缺失。
