ILLEGITIMATE RECOMBINATION PRODUCED A DUPLICATION WITHIN THE FVIII-GENE IN A PATIENT WITH MILD HEMOPHILIA-A

被引：33

作者：

MURRU, S

CASULA, L

PECORARA, M

MORI, P

CAO, A

PIRASTU, M

机构：

[1] OSPED REG MICROCITEMIE,CNR,IST RIC TALASSEMIE & ANEMIE MEDITERRANEE,CAGLIARI,ITALY

[2] IST GIANNINA GASLINI,DIV PEDIAT 4,I-16148 GENOA,ITALY

来源：

GENOMICS | 1990年 / 7卷 / 01期

关键词：

D O I：

10.1016/0888-7543(90)90526-Z

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We have characterized an unusual duplication of exon 13 within the factor VIII gene in a patient with a mild form of hemophilia A. This duplication was the result of a nonhomologous breakage and reunion event of two misaligned wild-type chromosomes. Sequence analysis of the breakpoint region revealed the presence of AT-rich sequences and possible topoisomerase I sites, whose involvement in several cases of illegitimate recombination has been postulated. © 1990.

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页码：115 / 118

页数：4

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