Szyfter W, Pruszewicz A, Zenner H P, Pfister M, Szyfter K, Blin N, Wróbel M, Łaczkowska J, Gawlak A, Kupka S, Sekula A
Klinika Otolaryngologii Akademii Medycznej w Poznaniu.
Otolaryngol Pol. 2001;55(1):79-84.
The aim of this study was to identify subjects with 35delG mutation of GJB2 gene as the most frequent genetic cause of deafness. Deaf patients receiving cochlear implantation at the ENT Clinic at University of Medical Sciences in Poznań and their family members were recruited to the study. Peripheral blood lymphocytes DNA was amplified in allele-specific PCR and analysed for single strand conformation polymorphism (SSCP) to detect mutation at DFNB1 locus. 35delG mutation at both alleles was found at 42.9% of deaf patients and 29.4% of health relatives were found to be carrier of the mutation at one allele. The study is thought to be a first step in analysis of typical mutations in Polish deaf population.
本研究的目的是鉴定携带GJB2基因35delG突变的受试者，该突变是耳聋最常见的遗传原因。招募了在波兹南医科大学耳鼻喉科诊所接受人工耳蜗植入的耳聋患者及其家庭成员参与本研究。采用等位基因特异性PCR扩增外周血淋巴细胞DNA，并分析单链构象多态性（SSCP）以检测DFNB1位点的突变。在42.9%的耳聋患者中发现两个等位基因均存在35delG突变，29.4%的健康亲属被发现携带一个等位基因的突变。该研究被认为是分析波兰耳聋人群典型突变的第一步。
