Identification of Seven Novel Mutations of F8C by DHPLC

被引：11

作者：

Frusconi, Sabrina ^{[1
]}

Passerini, Ilaria ^{[1
]}

Girolami, Francesca ^{[1
]}

Masieri, Maddalena ^{[1
]}

Linari, Silvia ^{[2
]}

Longo, Giovanni ^{[2
]}

Morfini, Massimo ^{[2
]}

Torricelli, Francesca ^{[1
]}

机构：

[1] Careggi Hosp, Cytogenet & Genet Unit, Florence, Italy

[2] Careggi Hosp, Hemophilia Ctr Florence, Florence, Italy

来源：

HUMAN MUTATION | 2002年 / 20卷 / 03期

关键词：

Factor VIII; FVIII; F8C; Hemophilia A; mutation analysis; CSGE; DHPLC;

D O I：

10.1002/humu.9052

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hemophilia A is an X-linked recessive disorder resulting from deficiency of Factor VIII (F8C), an important protein in blood coagulation. A large number of disease producing mutations have been reported in the F8C gene. However, a comprehensive analysis of mutations is difficult to conduct due to the large gene size, its many scattered exons, and the high frequency of de novo mutations. In this study, we performed analysis using PCR, Conformation Sensitive Gel Electrophoresis (CSGE), Denaturing High Performance Liquid Chromatography (DHPLC) and direct sequencing. We found seven novel mutations causing severe, moderate and mild Hemophilia A: IVS14-1G>A, G458V, T1695S, L1758P, Q2311P, 1441delT, 1269-1271insA. At least four variants detected by DHPLC (IVS14-1G>A, Q2311P, R698W and D1241Q) were not detectable by CSGE. (C) 2002 Wiley-Liss, Inc.

引用

页码：231 / 232

页数：6

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