The genetic etiology research progress of oculo-auriculo-vertebral spectrum
10.3760/cma.j.issn.1009-4598.2018.09.018
- VernacularTitle: 眼-耳-脊柱序列征的遗传学研究现状
- Author:
Xueshuang HUANG
1
;
Bo PAN
;
Le WANG
Author Information
1. Biomedical Research Center, Hunan University of Medicine, Huaihua 418000, China
- Publication Type:Review
- Keywords:
Chromosome, abnormality;
Copy number variation;
Gene
- From:
Chinese Journal of Plastic Surgery
2018;34(9):769-773
- CountryChina
- Language:Chinese
-
Abstract:
Oculo-auriculo-vertebral spectrum(OAVS)is one of common birth defects, which involves primarily optical, aural, maxillomandibular and spinal abnormal development. To date, the hereditary basis of OAVS has been generally accepted, but the responsible gene remains unclear. This article reviewed the possible etiology of OAVS in chromosome analysis, genome copy number detection, gene identification and mouse model, and analyzed the strategy for OAVS research.
