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ID 40618
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102_377.pdf 7.55 MB
Title Alternative
Molecular genetic survey of 5 kindreds with kininogen deficiency in Japan 2. Southern blot analysis of the kininogen gene
Author
Ishimaru, Eiji
Abstract
Southern blot analysis of genomic DNA was performed after digestion with 14 restiction endonucleases in four Japanese families affected with total kininogen deficiency and one Japanese family with isolated high molecular weight kinioogen deficiency, as well as in 15 normal subjects. The blots were hybridized with a kininogen cDNA probe (phKG36). In cases of total kininogen deficiency, the kininogen gene appeared to be grossly normal at the level of whole genome Southern blotting, suggesting that there were no major deletions, insertions or rearrangement in the kininogen gene. In a case of isolated high molecular weight kininogen deficiency, a partial deletion in intron 7 was identified. This deletion might have some influence on the mechanism of alternative splicing. Restriction fragment length polymorphism was detected with Msp I, but carrier detection in these deficient families was impossible.
Keywords
kininogen deficiency
Southern blotting
alternative splicing RFLP (restriction fragment length polymorphism)
Published Date
1990-04
Publication Title
岡山医学会雑誌
Publication Title Alternative
Journal of Okayama Medical Association
Volume
volume102
Issue
issue3-4
Publisher
岡山医学会
Publisher Alternative
Okayama Medical Association
Start Page
377
End Page
389
ISSN
0030-1558
NCID
AN00032489
Content Type
Journal Article
Official Url
https://www.jstage.jst.go.jp/article/joma1947/102/3-4/102_3-4_365/_article/-char/ja/
Related Url
http://www.okayama-u.ac.jp/user/oma/
language
日本語
Copyright Holders
岡山医学会
File Version
publisher
Refereed
True
Eprints Journal Name
joma