Early genetic diagnosis in patients with HHT induced severe nosebleed.
- Author:
Lingchao JI
1
;
Zhixin WANG
;
Qian WANG
;
Jing ZHANG
;
Jingjie JIA
;
Shaohua YOU
;
Yin BAI
;
Xuejun ZHOU
;
Suping ZHAO
;
Ying ZHOU
;
Gehua ZHANG
;
Hongtian WANG
Author Information
1. Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing,100853, China.
- Publication Type:Journal Article
- MeSH:
Activin Receptors, Type II;
genetics;
Adolescent;
Adult;
Antigens, CD;
genetics;
DNA Mutational Analysis;
Endoglin;
Epistaxis;
diagnosis;
etiology;
genetics;
Exons;
Female;
Genetic Testing;
Humans;
Male;
Middle Aged;
Pedigree;
Receptors, Cell Surface;
genetics;
Telangiectasia, Hereditary Hemorrhagic;
complications;
diagnosis;
genetics;
Young Adult
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2013;27(5):241-245
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To study the early gene diagnosis of hereditary hemorrhagic telangiectasia (HHT) induced severe nosebleed.
METHOD: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.
RESULT: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.
CONCLUSION: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.
