A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

Since the g.133283G>A single nucleotide change creates a novel restriction enzyme recognition site for Alf III (A[black triangle down]CRYGT), the specific amplification of exon 3 followed byAlf III digestion 3 has been widely adopted to detect the R122H mutation both in hereditary 4-6 9 and spora...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2000-11, Vol.37 (11), p.e36-36
Hauptverfasser:	CHEN, JIAN-MIN, RAGUENES, ODILE, FEREC, CLAUDE, DEPREZ, PIERRE H, VERELLEN-DUMOULIN, CHRISTINE
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Base Sequence Chronic Disease Deoxyribonucleic acid DNA DNA - chemistry DNA - genetics DNA Mutational Analysis Electronic Letters Genes Genetic testing Genotype Molecular Sequence Data Mutation Pancreatitis - genetics Sequence Homology, Nucleic Acid Studies Trypsin Trypsinogen - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Since the g.133283G>A single nucleotide change creates a novel restriction enzyme recognition site for Alf III (A[black triangle down]CRYGT), the specific amplification of exon 3 followed byAlf III digestion 3 has been widely adopted to detect the R122H mutation both in hereditary 4-6 9 and sporadic 9 15 cases of pancreatitis.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.37.11.e36