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Inversions involving the factor VIII gene. A, The region of Xq28 that includes the factor VIII gene, oriented with the telomere at the left. Three copies of
gene A are indicated, two lying upstream of factor VIII and one inside intron 22 of factor VIII. The location of the B transcript is also shown. The arrows
indicate the direction of transcription of the factor VIII and internal A and B genes. The direction of the upstream A genes is hypothesized to be as shown.
B, The proposed homologous recombination between the intron-22 copy of gene A and one of the two upstream copies. A crossover between these two
identical regions, oriented in the manner illustrated, results in an inversion of sequence between the two recombined A genes, as shown in C. A
recombination could involve either of the upstream A genes, but only one is presented. The crossover could occur anywhere in the region of homology that
Source: Hemophilia A: Deficiency of Coagulation Factor VIII, The Online Metabolic and Molecular Bases of Inherited Disease
includes the A genes.
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular
Bases of Inherited Disease; 2014 Available at: http://mhmedical.com/ Accessed: August 09, 2017
Copyright © 2017 McGraw-Hill Education. All rights reserved
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