Application of whole exome sequencing technique for the pathogenic gene screening of rare osteopetrosis
10.3969/j.issn.1673-4130.2018.01.003
- VernacularTitle:应用全外显子组测序技术筛查罕见石骨症致病基因
- Author:
Minglin OU
1
;
Wen XUE
;
Tongxiang ZOU
;
Peng ZHU
;
Ruohan ZHANG
;
Jiejing CHEN
;
Yong DAI
;
Chengfu DAI
Author Information
1. 中国人民解放军第一八一医院中心实验室/广西代谢性疾病研究重点实验室
- Keywords:
osteopetrosis;
disease gene;
exome sequencing
- From:
International Journal of Laboratory Medicine
2018;39(1):10-13
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen the pathogenic gene of osteopetrosis to provide reference for its genetic di-agnosis and prognosis .Methods The clinical data and peripheral blood samples were collected from the pa-tients with osteopetrosis ,DNA was extracted ,the whole exome sequencing library was built ,then the high throughput detection was performed and the pathogenic gene was screened by combining with the bioinformat-ics technology .Results The whole exomes in 2 cases of osteopetrosis were analyzed ,the average sequencing depth of the two samples were 169 .38X and 231 .06X respectively ,in which the case 1 carried rare mutation TCIRG1(c .1305+2T>C) ,TCIRG1(c .2008C> T ) and CLCN7(c .1116C> T );the case 2 carried a rare muta-tion CLCN7(c .857G>A ) .T he bioinformatics analysis indicated that the rare mutations carried by these cases all had different degrees of influence on the structure and function of gene products .Conclusion The whole exome sequencing can once screen the know n pathogenic mutations of osteopetrosis ,is an effective tool for pathogenic mutation screening of osteopetrosis ,the clinical disease in 2 cases of osteopetrosis may be closely related with the patient′s carrying TCIRG1 and CLCN7 mutation .
