Bors András, Andrikovics Hajnalka, Kalmár Lajos, Erdei Noémi, Galambos Sándor, Losonczi András, Füredi Sándor, Balogh István, Szalai Csaba, Tordai Attila
National Medical Center, Institute of Haematology and Immunology, Budapest, Hungary.
Int J Mol Med. 2004 Dec;14(6):1105-8.
The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the gene GJB2, encoding the protein connexin 26 (Cx26). The mutation c.35delG is found in 30-70% of Caucasian NSRD cases, and is abundant (allele frequency of 0.5-2%) in several European populations, while c.167delT is found in the Ashkenazi Jewish population with about 2% frequency. In the current study, using simple PCR-based tests we established an allele frequency of 0.6% in the Hungarian average, and 0.4% in the Romani (Gypsy) populations for the c.35delG mutation, and an allele frequency of 2.4% in the Ashkenazi population for the c.167delT mutation. Our results do not differ significantly from the published data for Caucasian and non-European Ashkenazi populations and they present figures for the Romani population for the first time. Both mutations may be significant causative factors among the NSRD cases of the respective populations in Central Europe.
非综合征性常染色体隐性聋（NSRD）最常见的形式是由编码连接蛋白26（Cx26）的GJB2基因突变引起的。c.35delG突变在30%至70%的白种人NSRD病例中被发现，并且在几个欧洲人群中很常见（等位基因频率为0.5%至2%），而c.167delT突变在阿什肯纳兹犹太人群体中的频率约为2%。在本研究中，我们通过基于简单PCR的检测方法确定，匈牙利人群中c.35delG突变的等位基因频率平均为0.6%，罗姆（吉普赛）人群中为0.4%，阿什肯纳兹人群中c.167delT突变的等位基因频率为2.4%。我们的结果与已发表的白种人和非欧洲阿什肯纳兹人群的数据没有显著差异，并且首次给出了罗姆人群体的数据。这两种突变可能是中欧各自人群NSRD病例中的重要致病因素。
