Connexin 26基因233delC突变与中国人先天性耳聋的研究

目的 :Connexin2 6基因突变是引起常染色体隐性遗传 DFNB1和常染色体显性遗传 DFNA3的遗传基础 ,其中的 35 del G的突变在欧美人 DFNB1耳聋患者中的检出率为 70～ 80 % ,但在中国耳聋人群中未检到该点突变。本文旨在筛选中国人耳聋相关的 Connexin2 6基因的突变热点。方法 :采用 PCR- RFL P筛选 2 19例不同耳聋类型的患者和 5 0例听力正常人的 Connexin 2 6基因 2 33del C的突变 (2 1.5 % )。结果 :2 19例耳聋患者中共发现了 47例 Connexin 2 6基因2 33del C的突变 (2 1.5 % )。在先天性耳聋患者中 2 33del C的突变率为 33% ,遗传性语前聋患者为 2 6 .7%。 5 0例药物性致聋的患者有 10例发生突变。遗传性及散发性进行性感音神经性耳聋和听力正常人未检测到 2 33delc突变。结论 :Connexin2 6基因 2 33del C突变在中国先天性耳聋人群中发生频率较高 ,与欧美人不同。我们的结果表明 ,Connexin2

膜型基质金属蛋白酶-1在喉鳞癌中的表达

The expression of the MT1 MMP mRNA (membrane type 1 matrix metalloproteinase) was measured by RT PCR method in 45 patients with laryngeal squamous cell carcinoma and the relationship between MT1 MMP positive rate and 5 year survival rate was investigated in 18 cases.There were 28 males and 17 females,ranging in age from 34 to 78 years old.Of these patients,there were 7 in stage Ⅰ,9 in stage Ⅱ,15 in stage Ⅲ,9 in stage Ⅳ,5 in recurrent group.Results showed that the expression of MT1 MMP mRNA (MT1 MMP/ actin) was higher in tumor tissue (45 cases) (0 4511±0 1052) than that in adjacent tissue of tumor (35 cases) (0 3818±0 0680) (P<0 05).The expression level of MT1 MMPmRNA in tumor tissue on stage Ⅲ (15 cases) (0 4568±0 1185) was than stage Ⅱ (9 cases) (0 3413±0 0904) (P<0 05),and also was significantly higher in group of 20 patients with lymph node metastasis (0 4991±0 1197) than that in group of 20 patients with negative lymph node metastasis (0 3574±0 0741) (P<0 01).The 5 year survival rate in group of 10 patients with high expression level of MT1 MMPmRNA was significantly poorer than that in group of 8 patients with low expression level (40% vs 90%,P<0 01).It seemed closely relates between the expression of MT1 MMPmRNA and metastasis,prognosis of laryngeal carcinoma.

游离腹直肌肌皮瓣移植颅面部巨大缺损一期整复术

目的 :探讨修复巨大颅面缺损的手术方法。方法 :采用显微血管外科技术 ,对 4例颅面部晚期癌肿切除术后形成的巨大缺损施行游离腹直肌肌皮瓣移植一期整复术。其中右侧上颌窦巨大恶性血管外皮瘤侵犯颜面眼眶及颅底 1例 ,左上颌骨癌侵犯面颊及鼻背 1例 ,左上颌骨纤维肉瘤侵犯眼眶及侧颅底 1例 ,左上颌骨癌上颌骨切除术后放疗面颊部软组织大面积坏死 1例。结果 :4例游离腹直肌肌皮瓣均以腹壁下动脉为血管蒂 ,皮瓣的皮岛最小 6× 9cm,最大 12× 15cm,切取腹直肌的大小依照待修复区充填缺损所需组织量的多少而定。根据所修复的部位受区血管有所不同。术后皮瓣全部成活 ,局部整形效果满意。结论