Allelic Ladder Characterization of the Short Tandem Repeat Polymorphism Located in the 5′ Flanking Region to the Human Coagulation Factor XIII A Subunit Gene

Genomics ◽  
1994 ◽  
Vol 23 (1) ◽  
pp. 260-264 ◽  
Author(s):  
Christoph Puers ◽  
Holly A. Hammond ◽  
C.Thomas Caskey ◽  
Ann M. Lins ◽  
Cynthia J. Sprecher ◽  
...  
Keyword(s):  
Coagulation Factor ◽  
Subunit Gene ◽  
Repeat Polymorphism ◽  
Allelic Ladder ◽  
A Subunit ◽  
Flanking Region ◽  
Human Coagulation Factor Xiii ◽  
Short Tandem ◽  
Tandem Repeat Polymorphism

Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene

1996 ◽  
Vol 98 (4) ◽  
pp. 393-395 ◽  
Author(s):  
K. Suzuki ◽  
Jürgen Henke ◽  
Misa Iwata ◽  
Lotte Henke ◽  
Hiroko Tsuji ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Coagulation Factor ◽  
Subunit Gene ◽  
Coagulation Factor Xiii ◽  
A Subunit ◽  
Human Coagulation Factor Xiii

A Founder Effect Is Proposed for Factor XIII B Subunit Deficiency Caused by the Insertion of Triplet AAC in Exon III Encoding the Second Sushi Domain

1998 ◽  
Vol 80 (08) ◽  
pp. 211-213 ◽  
Author(s):  
Masayoshi Souri ◽  
Tomonori Izumi ◽  
Yoichiro Higashi ◽  
Antonio Girolami ◽  
Akitada Ichinose
Keyword(s):  
Founder Effect ◽  
Factor Xiii ◽  
Type I ◽  
Nucleotide Polymorphism ◽  
Repeat Polymorphism ◽  
Her Family ◽  
B Subunit ◽  
Flanking Region ◽  
Short Tandem ◽  
Tandem Repeat Polymorphism

SummaryWe previously concluded that genetic defects in the B subunit of factor XIII were the basis for former Type I deficiency (i.e. factor XIII B subunit deficiency). When we examined an Italian patient with the disease at the DNA level, restriction digestion and sequencing analyses of amplified DNAs revealed that the proband and her family members possessed an AAC insertion within the codon for Tyr-80 in exon III in the gene for the B subunit, a nucleotide polymorphism (A-G) in its 3’-noncoding region in exon XII, and a short tandem repeat polymorphism of (TTTA)9 in the 3’-flanking region. These mutations and 3’-polymorphisms were also identified in another Italian family reported in a previous study (10), suggesting that a founder effect is responsible for factor XIII B subunit deficiency in Italians.

Characterization of the 5′-flanking region of the gene for the cAMP-inducible protein kinase A subunit, RIIβ, in Sertoli cells

1997 ◽  
Vol 129 (1) ◽  
pp. 101-114 ◽  
Author(s):  
Helle K Knutsen ◽  
Kjetil Taskén ◽  
Winnie Eskild ◽  
JoAnne S Richards ◽  
Richard C Kurten ◽  
...  
Keyword(s):  
Protein Kinase ◽  
Protein Kinase A ◽  
Sertoli Cells ◽  
A Subunit ◽  
Flanking Region ◽  
Inducible Protein ◽  
Kinase A

Characterization of a tandem repeat polymorphism in Rickettsia strains

2005 ◽  
Vol 54 (9) ◽  
pp. 833-841 ◽  
Author(s):  
Liliana Vitorino ◽  
Rita de Sousa ◽  
Fatima Bacellar ◽  
Líbia Zé-Zé
Keyword(s):  
Tandem Repeat ◽  
Repeat Polymorphism ◽  
Tandem Repeat Polymorphism
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