scholarly journals Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.

1997 ◽  
Vol 7 (3) ◽  
pp. 223-234 ◽  
Author(s):  
J Dixon ◽  
S J Edwards ◽  
I Anderson ◽  
A Brass ◽  
P J Scambler ◽  
...  
Keyword(s):  
Genomic Organization ◽  
Treacher Collins Syndrome ◽  
Coding Sequence

scholarly journals Genomic Organization in the Amino Acid Coding Sequence of Equine CYP17 Gene.

2000 ◽  
Vol 11 (4) ◽  
pp. 99-105
Author(s):  
Telhisa HASEGAWA ◽  
Fumio SATO ◽  
Nobushige ISHIDA
Keyword(s):  
Amino Acid ◽  
Genomic Organization ◽  
Coding Sequence ◽  
Cyp17 Gene

Genomic Organization of the Human Heparan Sulfate-N-Deacetylase/N-Sulfotransferase Gene: Exclusion from a Causative Role in the Pathogenesis of Treacher Collins Syndrome

Genomics ◽  
1996 ◽  
Vol 32 (3) ◽  
pp. 471-473 ◽  
Author(s):  
Amanda J. Gladwin ◽  
Jill Dixon ◽  
Stacie K. Loftus ◽  
John J. Wasmuth ◽  
Michael J. Dixon
Keyword(s):  
Heparan Sulfate ◽  
Genomic Organization ◽  
Treacher Collins Syndrome ◽  
Causative Role

Genomic organization, coding sequence and functional expression of human 5-HT2 and 5-HT1A receptor genes

1992 ◽  
Vol 227 (2) ◽  
pp. 153-162 ◽  
Author(s):  
Nico J. Stam ◽  
Frans Van Huizen ◽  
Caroline Van Alebeek ◽  
Rein Dijkema ◽  
Jeroen A.D.M. Tonnaer ◽  
...  
Keyword(s):  
Genomic Organization ◽  
Functional Expression ◽  
Coding Sequence

Porcine PPARGC1A (peroxisome proliferative activated receptor gamma coactivator 1A): coding sequence, genomic organization, polymorphisms and mapping

2005 ◽  
Vol 112 (1-2) ◽  
pp. 106-113 ◽  
Author(s):  
K. Jacobs ◽  
G. Rohrer ◽  
M. van Poucke ◽  
F. Piumi ◽  
M. Yerle ◽  
...  
Keyword(s):  
Genomic Organization ◽  
Coding Sequence

Coding Sequence, Genomic Organization, and Conserved Chromosomal Localization of the Mouse Gene Scn11a Encoding the Sodium Channel NaN

Genomics ◽  
1999 ◽  
Vol 59 (3) ◽  
pp. 309-318 ◽  
Author(s):  
Sulayman D. Dib-Hajj ◽  
Lynda Tyrrell ◽  
Andrew Escayg ◽  
Patrick M. Wood ◽  
Miriam H. Meisler ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Genomic Organization ◽  
Chromosomal Localization ◽  
Mouse Gene ◽  
Coding Sequence

Coding sequence, genomic organization and expression of a folate binding protein gene in the rat

Gene ◽  
2000 ◽  
Vol 254 (1-2) ◽  
pp. 219-228 ◽  
Author(s):  
Easwara Sadasivan ◽  
Yong Meng ◽  
Sheldon P. Rothenberg
Keyword(s):  
Genomic Organization ◽  
Protein Gene ◽  
Binding Protein ◽  
Folate Binding Protein ◽  
Coding Sequence ◽  
Binding Protein Gene

Localization of the Br Polymorphism on a 144 bp Exon of the GPIa Gene and Its Application in Platelet DNA Typing

1994 ◽  
Vol 71 (05) ◽  
pp. 651-654 ◽  
Author(s):  
Rainer Kalb ◽  
Sentot Santoso ◽  
Katja Unkelbach ◽  
Volker Kiefel ◽  
Christian Mueller-Eckhardt
Keyword(s):  
Genomic Organization ◽  
Fragment Length Polymorphism ◽  
Human Platelet ◽  
Dna Typing ◽  
Rflp Analysis ◽  
Serological Typing ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Alloimmune Thrombocytopenia ◽  
Rflp Typing

SummaryAlloimmunization against the human platelet alloantigen system Br (HPA-5) is the second most common cause of neonatal alloimmune thrombocytopenia (NAIT) in Caucasian populations. We have recently shown that a single base polymorphism at position 1648 on platelet mRNA coding for GPIa results in an aminoacid substitution at position 505 on the mature GPIa which is associated with the two serological defined Br phenotypes.Since DNA-typing of platelet alloantigens offers possibilities for useful clinical applications, we designed genomic DNA-based restriction fragment length polymorphism (RFLP) typing for Br alloantigens. To establish this technique we analyzed the genomic organization of GPIa adjacent to the polymorphic base. Using the polymerase chain reaction (PCR) of blood cell DNA we have identified two introns (approximately 1.7 and 1.9 kb) flanking a 144 bp coding sequence of the GPIa gene encompassing the polymorphic base 1648. Based on the in- tron sequence, a PCR primer was constructed to amplify a 274 bp fragment which was used for allele-specific RFLP to determine the Br genotypes. The results of RFLP analysis using Mnll endonuclease obtained from 15 donors (2 Br37*, 2 Br^ and 11 Brb/b) correlate perfectly with serological typing by monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay.

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