FVIII intron 22 homologous region mediated recombinations and genotyping methods of hemophilia A / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 865-868, 2014.
Article
Dans Zh
| WPRIM
| ID: wpr-302383
Responsable en Bibliothèque :
WPRO
ABSTRACT
The intron 22 inversion is caused by intrachromosomal homologous recombination of the Int22h (intron 22 homologous region) repeats in opposite orientation, accounting for almost 45%-50% of all cases of severe hemophilia A. By contrast, recombinations between similarly oriented int22h repeats in the same chromosome, homologous chromosomes or chromatids may cause deletion or duplication of the intermediate region between the two int22h copies, resulting in false-positive or false-negative possibility that obscure the characterization of intron 22 inversion. The modified long distance PCR(LD-PCR) and inverse shifting PCR(IS-PCR) would distinguish all the possible int22h-mediated rearrangements.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Recombinaison génétique
/
Facteur VIII
/
Introns
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Réaction de polymérisation en chaîne
/
Génétique
/
Génotype
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Hémophilie A
/
Méthodes
Limites du sujet:
Humans
langue:
Zh
Texte intégral:
Journal of Experimental Hematology
Année:
2014
Type:
Article