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目的 :探讨国人耳聋人群中 connexin2 6基因的突变频率和位点。方法 :收集 15例有遗传性耳聋家族史的病例和 2 5 2例散发性先天性耳聋病例血液样本 ,使用 PCR- SSCP方法分析 connexin2 6基因编码区突变。同时采用 PSDM和 Bsi YI酶切的方法 ,直接检测异常 connexin 2 6基因 35 del G的突变。结果 :检出突变样本 4 6例 ,其中散发耳聋患者中 38例 ,突变率为 15 .1% ;有家族史的聋儿 15例中 8例 ,突变率为 5 3.3%。 4 6例中 5份有相似的异常电泳带 ,PCR产物直接测序 ,其形式为 79位 G→ A的突变 ;另外在散发耳聋患者中还发现 2例 2 5 1del T和 2 33del C,PDSM分析未发现有 35 del G的突变。结论 :国人先天性耳聋患者中存在着 connexin2 6基因的高突变率 ,但突变热点与国外报道的不同 ,推测 connexin2 6基因突变有明显的种族特异性
Objective: To investigate the frequency and location of connexin2 6 mutation in Chinese deafness population. Methods: Fifteen cases of family history of hereditary deafness and 225 cases of sporadic cases of congenital deafness were collected. The mutation of connexin2 6 gene was analyzed by PCR-SSCP. At the same time, PSDM and Bsi YI digestion were used to detect the 35 del G mutation of connexin 2 6 gene. Results: A total of 46 samples were detected, including 38 cases of deafness. The mutation rate was 15.1%. Among the 15 cases, 8 cases were deaf children with the same family history. The mutation rate was 53.3%. Five out of 46 cases had similar abnormal electrophoresis bands, and the PCR products were sequenced directly with a mutation of 79 G → A. In addition, two cases of 215 dedel and 2 33 del C were also found in patients with deafness, PDSM analysis No 35 del G mutation was found. CONCLUSION: There is a high mutation rate of connexin2 6 gene in Chinese patients with congenital deafness. However, the mutation hot spots are different from those reported in foreign countries. It is speculated that the connexin2 6 gene mutation has obvious race specificity