Ji Lingchao, Wang Zhixin, Wang Qian, Zhang Jing, Jia Jingjie, You Shaohua, Bai Yin, Zhou Xuejun, Zhao Suping, Zhou Ying, Zhang Gehua, Wang Hongtian
Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing,100853, China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Mar;27(5):241-5.
To study the early gene diagnosis of hereditary hemorrhagic telangiectasia (HHT) induced severe nosebleed.
Clinical features of 23 family members in two HHT pedigrees were examined. Genomic DNA was extracted from peripheral blood samples. PCR amplification was conducted to screen ENG and ACVRL-1 genes with their specific primers. Direct sequencing was performed to detect the mutation. Mutation analysis was carried out to evaluate its significance.
A heterozygous c. 263A > G mutation was identified in exon 3 of ACVRL-1 in 6 out of 11 members in NMG-1 pedigree. In GD-2 pedigree, 5 of 11 members carried c. 199C > G mutation. Mutation detection rate was 100% in subjects with nosebleed history and 25% in family members without epistaxis.
Gene diagnosis characterized by high sensitivity and specificity is of great practi-cal significance and early genetic screening should be a clinical routine test for HHT induced severe nosebleed.
研究遗传性出血性毛细血管扩张症（HHT）所致严重鼻出血的早期基因诊断。
对两个HHT家系中的23名家庭成员的临床特征进行检查。从外周血样本中提取基因组DNA。用其特异性引物进行PCR扩增以筛选ENG和ACVRL - 1基因。进行直接测序以检测突变。进行突变分析以评估其意义。
在NMG - 1家系的11名成员中，有6名在ACVRL - 1基因第3外显子中鉴定出杂合性c.263A>G突变。在GD - 2家系中，11名成员中有5名携带c.199C>G突变。有鼻出血病史的受试者突变检出率为100%，无鼻出血的家庭成员突变检出率为25%。
具有高敏感性和特异性的基因诊断具有重要的实际意义，早期基因筛查应成为HHT所致严重鼻出血的临床常规检查。
