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中文摘要：
目的分析遗传性聋一个家系五例耳聋患者的分子病因学。方法对一个遗传性聋家系的5例耳聋患者进行GJB2,线粒体DNA 12S rRNA A1555G,SLC26A4和MITF 4种基因进行突变检测。结果此家系的5例耳聋患者中有3例检测到携带致病性突变,其中两人携带Mt DNA A1555G点突变,一人携带SLC26A4 279T>A/2168A>G复合杂合突变;另外两人虽表现为Waardenburg综合征但未查找到突变位点。结论耳聋患者间的同证婚配可导致家族内遗传性聋分子病因的复杂化。
英文摘要：
Objective To understand molecular etiology of genetic hearing loss in 5 patients in a Chinese family.Methods Peripheral blood specimens were collected and DNA templates extracted.Using polymerase chain reaction,the coding region of GJB2,mtDNA 12S rRNA,SLC26A4 and MITF were amplified.Mutations were detected by direct sequencing.Results Pathogenic mutations were found in 3 patients,of whom 2 were found to carry the mtDNA 12SrRNA A1555G mutation and 1 with compound heterozygous mutation of the SLC26A4 gene.The...
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