Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein

AIM: To screen congenital cataract in the early stage using dual-specific probe technique composed of DNA hybridization and chromogenic probe. <p>METHODS: The mRNA was isolated from venous blood of 14 congenital cataract patients with autosomal dominant inheritance in 3 chromosomes. Based on g...

Full description

Bibliographic Details
Main Authors: Yu-Juan Cao, Jun Shao, Ying-Qing Yu, Yong Yao, Jing Zhu, Yu-Jing Tian, Jia Cao
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2018-06-01
Series:Guoji Yanke Zazhi
Subjects:
Online Access:http://ies.ijo.cn/cn_publish/2018/6/201806006.pdf
_version_ 1818982667359617024
author Yu-Juan Cao
Jun Shao
Ying-Qing Yu
Yong Yao
Jing Zhu
Yu-Jing Tian
Jia Cao
author_facet Yu-Juan Cao
Jun Shao
Ying-Qing Yu
Yong Yao
Jing Zhu
Yu-Jing Tian
Jia Cao
author_sort Yu-Juan Cao
collection DOAJ
description AIM: To screen congenital cataract in the early stage using dual-specific probe technique composed of DNA hybridization and chromogenic probe. <p>METHODS: The mRNA was isolated from venous blood of 14 congenital cataract patients with autosomal dominant inheritance in 3 chromosomes. Based on genetic mutats of CRYAB gene, DNA probe, capture probe and signal probe were designed. The sandwich structures containing capture probe, DNA probe and signal probe was used to detect genetic mutants in 8 samples from one family; and ELISA was used to detect the contents fluctuation of Crystallin alpha B. <p>RESULTS: The dual-specific probe technique detected the minimum genetic mutation of Crystallin alpha B in congenital cataract samples, various mutations detection rate was between 99.5% and 99.7%. In ELISA detection, serum Crystallin alpha B level increased, and detection rate was 85.9%. Compared with ELISA assay, this novel assay was more sensitive. <p>CONCLUSION: The novel dual-specific probe method is quite convenient for detection of genetic mutants of congenital cataract; and for its high sensitivity and repeatability, it is of great potential in clinically prenatal diagnosis, and it might play significant roles in eugenic and superior nurture.
first_indexed 2024-12-20T17:50:51Z
format Article
id doaj.art-7a676152de734895906e05824c3e9de9
institution Directory Open Access Journal
issn 1672-5123
1672-5123
language English
last_indexed 2024-12-20T17:50:51Z
publishDate 2018-06-01
publisher Press of International Journal of Ophthalmology (IJO PRESS)
record_format Article
series Guoji Yanke Zazhi
spelling doaj.art-7a676152de734895906e05824c3e9de92022-12-21T19:30:51ZengPress of International Journal of Ophthalmology (IJO PRESS)Guoji Yanke Zazhi1672-51231672-51232018-06-011861004100910.3980/j.issn.1672-5123.2018.6.06Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens proteinYu-Juan Cao0Jun Shao1Ying-Qing Yu2Yong Yao3Jing Zhu4Yu-Jing Tian5Jia Cao6Department of Ophthalmology, Wuxi Children's Hospital, Wuxi 214023, Jiangsu Province, ChinaDepartment of Ophthalmology, Wuxi People's Hospital, Wuxi 214023, Jiangsu Province, ChinaDepartment of Ophthalmology, Wuxi Children's Hospital, Wuxi 214023, Jiangsu Province, ChinaDepartment of Ophthalmology, Wuxi People's Hospital, Wuxi 214023, Jiangsu Province, ChinaDepartment of Ophthalmology, Wuxi People's Hospital, Wuxi 214023, Jiangsu Province, ChinaDepartment of Ophthalmology, Wuxi Children's Hospital, Wuxi 214023, Jiangsu Province, ChinaDepartment of Ophthalmology, Wuxi Children's Hospital, Wuxi 214023, Jiangsu Province, ChinaAIM: To screen congenital cataract in the early stage using dual-specific probe technique composed of DNA hybridization and chromogenic probe. <p>METHODS: The mRNA was isolated from venous blood of 14 congenital cataract patients with autosomal dominant inheritance in 3 chromosomes. Based on genetic mutats of CRYAB gene, DNA probe, capture probe and signal probe were designed. The sandwich structures containing capture probe, DNA probe and signal probe was used to detect genetic mutants in 8 samples from one family; and ELISA was used to detect the contents fluctuation of Crystallin alpha B. <p>RESULTS: The dual-specific probe technique detected the minimum genetic mutation of Crystallin alpha B in congenital cataract samples, various mutations detection rate was between 99.5% and 99.7%. In ELISA detection, serum Crystallin alpha B level increased, and detection rate was 85.9%. Compared with ELISA assay, this novel assay was more sensitive. <p>CONCLUSION: The novel dual-specific probe method is quite convenient for detection of genetic mutants of congenital cataract; and for its high sensitivity and repeatability, it is of great potential in clinically prenatal diagnosis, and it might play significant roles in eugenic and superior nurture.http://ies.ijo.cn/cn_publish/2018/6/201806006.pdfdual-specific probe techniquecongenital cataractlens protein genelens protein gene
spellingShingle Yu-Juan Cao
Jun Shao
Ying-Qing Yu
Yong Yao
Jing Zhu
Yu-Jing Tian
Jia Cao
Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein
Guoji Yanke Zazhi
dual-specific probe technique
congenital cataract
lens protein gene
lens protein gene
title Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein
title_full Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein
title_fullStr Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein
title_full_unstemmed Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein
title_short Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein
title_sort early detection using dual specific probe technique for genetic mutation of congenital cataract lens protein
topic dual-specific probe technique
congenital cataract
lens protein gene
lens protein gene
url http://ies.ijo.cn/cn_publish/2018/6/201806006.pdf
work_keys_str_mv AT yujuancao earlydetectionusingdualspecificprobetechniqueforgeneticmutationofcongenitalcataractlensprotein
AT junshao earlydetectionusingdualspecificprobetechniqueforgeneticmutationofcongenitalcataractlensprotein
AT yingqingyu earlydetectionusingdualspecificprobetechniqueforgeneticmutationofcongenitalcataractlensprotein
AT yongyao earlydetectionusingdualspecificprobetechniqueforgeneticmutationofcongenitalcataractlensprotein
AT jingzhu earlydetectionusingdualspecificprobetechniqueforgeneticmutationofcongenitalcataractlensprotein
AT yujingtian earlydetectionusingdualspecificprobetechniqueforgeneticmutationofcongenitalcataractlensprotein
AT jiacao earlydetectionusingdualspecificprobetechniqueforgeneticmutationofcongenitalcataractlensprotein