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Start Over Descriptor "male lethality" Topic genetic recombination
1 results on '"male lethality"'

1. Large deletion in the Factor VIII gene ( F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

Author

Casaña, Pilar, Mayo, Sonia, Monfort, Sandra, Orellana, Carmen, Haya, Saturnino, Cid, Ana R., Roselló, Monica, Oltra, Silvestre, and Martínez, Francisco

Subjects
*BLOOD coagulation factor VIII, *CHROMOSOME inversions, *HEMOPHILIA, *HOMOLOGOUS chromosomes, *INTRONS, *PALINDROMES, *GENETIC recombination, *GENETICS
Abstract

The article discusses the inversion of the factor VIII gene (F8) causing haemophilia. According to initial hypothesis, homologous recombination between repeat int22h-1, in intron 22 of F8 and and one of the two duplicons, int22h-2 or int22h-3, in the reverse direction caused haemophilia A whereas at present, the duplicons are known to be inversely oriented in relation to each other forming imperfect palindrome with a central unique loop of 67.3 kb and arms of 50.5 kb.

Published
2012
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