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A Plausible Method for the Diagnosis of Genetic Disorders Using Full Length cDNA

 Hyangsuk Hur  ;  Youngwon Lee  ;  Hyoungwoo Park  ;  Myoung Hee Kim 
 Journal of Experimental & Biomedcal Science (대한의생명과학회지), Vol.7(1) : 1-5, 2001 
Journal Title
 Journal of Experimental & Biomedcal Science (대한의생명과학회지) 
Issue Date
full length cDNA ; diagnosis ; southern hybridization
A cDNA of coagulation Factor IX gene has been screened from the $\lambda$gt11 human fetal liver cDNA library, and used to construct a 2.8-kb full length cDNA after recombining with the N-terminal fragment from pTZ-FIX. Human genomic DNA was isolated, digested with the restriction endonucleases, TaqI, EcoRI, and HindIII, and Southern hybridization was performed using the full length factor IX cDNA as a probe. The hybridized bands generated by the restriction endonucleases were the followings: TaqI, 0.3, 1.0, 1.6, 1.8, 2.7, 3.7, and 5.3 kb bands; EcoRI, 1.8, 4.8, 4.9, 5.5, 6.8, and 12.6 kb bands; HindIII, 4.1, 4.4, 5.2, 5.8, 7.6, and 12.5 kb bands. When the Southern bands were physically mapped along the genome, about 50-kb continuous region harboring almost all of the genomic region of Factor Ⅸ gene was covered. These results suggest a possibility of using an exonal cDNA probe to diagnose abnormalities including large deletions, insertions, and rearrangements along the genome, if there is any.
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1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
Yonsei Authors
Kim, Myoung Hee(김명희) ORCID logo https://orcid.org/0000-0001-5652-1452
Park, Hyoung Woo(박형우) ORCID logo https://orcid.org/0000-0002-5341-9249
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