SVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia B

• Published in: International journal of hematology Vol. 102; no. 1; pp. 134 - 139
• Main Authors: Nakamura, Yuki, Murata, Moe, Takagi, Yuki, Kozuka, Toshihiro, Nakata, Yukiko, Hasebe, Ryo, Takagi, Akira, Kitazawa, Jun-ichi, Shima, Midori, Kojima, Tetsuhito
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.07.2015; Springer Nature B.V
• Subjects: Alternative Splicing; Alu Elements; Case Report; Exons; Factor IX - genetics; Genetic Association Studies; Hematology; Hemophilia B - diagnosis; Hemophilia B - genetics; Humans; Infant; Male; Medicine; Medicine & Public Health; Minisatellite Repeats; Oncology; Polymerase Chain Reaction; Retroelements; Severity of Illness Index; Hemophilia B; mRNA splicing; SVA retrotransposon; Exontrap analysis

Hemophilia B is an X-linked recessive bleeding disorder caused by abnormalities of the coagulation factor IX gene ( F9 ). Insertion mutations in F9 ranging from a few to more than 100 base pairs account for only a few percent of all hemophilia B cases. We investigated F9 to elucidate genetic abnorma...