Teek Rita, Kruustük Katrin, Zordania Riina, Joost Kairit, Reimand Tiia, Möls Tõnu, Oitmaa Eneli, Kahre Tiina, Tõnisson Neeme, Ounap Katrin
Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12. doi: 10.1016/j.ijporl.2010.05.026. Epub 2010 Jun 18.
The purpose of this study was to determine the prevalence of c.35delG and p.M34T mutations in the GJB2 gene among children with early onset hearing loss and within a general population of Estonia.
Using an arrayed primer extension assay, we screened 233 probands with early childhood onset hearing loss for 107 different mutations in the GJB2 gene. We then looked for the two most common mutations, c.35delG and p.M34T, in a population of 998 consecutively born Estonian neonates to determine the frequency of these mutations in the general population.
In 115 (49%) of the patients with early onset hearing loss, we found a mutation in at least one allele of the GJB2 gene. Seventy-three (31%) were homozygous for the c.35delG mutation, seven (3%) were homozygous for the p.M34T mutation, and five (2%) had c35delG/p.M34T compound heterozygosity. Other six identified mutations in GJB2 gene occurred rarely. Among the 998 anonymous newborn samples, we detected 45 who were heterozygous for c.35delG, 2 individuals homozygous for c.35delG, and 58 who were heterozygous for p.M34T. Additionally, we detected two c.35delG/p.M34T compound heterozygotes.
The most common GJB2 gene mutations in Estonian children with early onset hearing loss were c.35delG and p.M34T, with c.35delG accounting for 75% of GJB2 alleles. The carrier frequency for c.35delG and p.M34T in a general population of Estonia was 1 in 22 and 1 in 17, respectively, and was higher than in most other countries.
本研究旨在确定爱沙尼亚早发性听力损失儿童及普通人群中GJB2基因c.35delG和p.M34T突变的患病率。
我们采用引物延伸分析方法，对233例早发性听力损失先证者进行GJB2基因107种不同突变的筛查。然后，在998例连续出生的爱沙尼亚新生儿群体中寻找两种最常见的突变，即c.35delG和p.M34T，以确定这些突变在普通人群中的频率。
在115例（49%）早发性听力损失患者中，我们发现GJB2基因至少一个等位基因存在突变。73例（31%）为c.35delG突变纯合子，7例（3%）为p.M34T突变纯合子，5例（2%）为c35delG/p.M34T复合杂合子。GJB2基因中其他6种已鉴定的突变很少见。在998份匿名新生儿样本中，我们检测到45例c.35delG杂合子、2例c.35delG纯合子以及58例p.M34T杂合子。此外，我们还检测到2例c.35delG/p.M34T复合杂合子。
爱沙尼亚早发性听力损失儿童中最常见的GJB2基因突变是c.35delG和p.M34T，其中c.35delG占GJB2等位基因的75%。在爱沙尼亚普通人群中，c.35delG和p.M34T的携带频率分别为1/22和1/17，高于大多数其他国家。
