Piatto Vânia B, Oliveira Camila A, Alexandrino Fabiana, Pimpinati Carla J, Sartorato Edi L
Departamento de Anatomia, Faculdade de Medicina de São José do Rio Preto (FAMERP), SP.
J Pediatr (Rio J). 2005 Mar-Apr;81(2):139-42.
To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment.
233 newborn were evaluated at the Hospital de Base de São José do Rio Preto, SP, for molecular analysis of the 35delG mutation in the connexin 26 gene, with the reaction technique in allele-specific polymerase chain reaction, after genomic DNA extraction from umbilical cord blood.
Five heterozygotes were identified, obtaining a prevalence of 2.24% of 35delG mutation carriers in the study population.
Using the molecular test allowed for the identification of the 35delG mutation in the study population with the possibility of being used as a complement to neonatal audiometric screening as being simple, fast, and easily to perform with low costs.
通过特定分子检测调查新生儿群体中35delG突变的患病率，并评估遗传性新生儿听力障碍筛查的前景。
在圣保罗州里约普雷图市圣若泽杜斯坎普斯市立医院对233名新生儿进行评估，从脐带血中提取基因组DNA后，采用等位基因特异性聚合酶链反应技术对连接蛋白26基因中的35delG突变进行分子分析。
鉴定出5名杂合子，研究人群中35delG突变携带者的患病率为2.24%。
使用该分子检测能够在研究人群中鉴定出35delG突变，因其操作简单、快速、易于实施且成本低，有可能作为新生儿听力筛查的补充手段。
