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ＭＹＯ７Ａ基因的突变可引起遗传性耳聋，既有综合征性耳聋，又有非综合征性耳聋，其中又包含隐性遗传和显性遗传性耳聋。为研究此基因突变与先天性聋哑的关系，本文通过多聚酶链式反应（ＰＣＲ）及非放射性同位素标记的单链构象多态性分析（Ｎｏｎ－ＲＩＳＳＣＰ）方法检测一隐性遗传性耳聋家系，结果发现先天性聋哑患者有ＭＹＯ７Ａ基因第九外显子突变，其父母为突变基因的携带者，证实其先天性聋哑与此位点突变相关，ＭＹＯ７Ａ基因的突变分析对遗传性耳聋的临床诊断是非常重要的。
Mutations in MYO7A gene can cause hereditary deafness, both syndromic deafness, non-syndromic deafness, which also includes recessive and dominant hereditary deafness. In order to study the relationship between this gene mutation and congenital deaf-mute, a non-RISSCP method was used to detect a recessive hereditary deafness pedigree, The results showed that patients with congenital deaf-mute MYO7A gene exon 9 mutations, the parents of the mutant gene carriers, confirmed its congenital deaf and the site-related mutations in MYO7A gene mutation analysis of genetic deafness clinical Diagnosis is very important.