𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of twenty-one new mutations in the factor IX gene by SSCP analysis

✍ Scribed by J.M. Montejo; M. Magallón; E. Tizzano; J. Solera

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
293 KB
Volume
13
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it was possible to identify molecular alterations leading to the appearance of the disease. Twenty-one new mutations were identified, including 13 missense mutations, two nonsense mutations, three splice-site mutations, one frameshift deletion, one frameshift insertion, and one nonframeshift deletion. The approach appears to be very suitable for molecular diagnosis of hemophilia B. Hum Mutat 13:160165, 1999.

📜 SIMILAR VOLUMES

Mutational-screening in the factor VIII
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation
✍ Katharina Möller-Morlang; Kamiab Tavassoli; Antonin Eigel; Hartmut Pollmann; Jür 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. The identification and characterization of pathogenic mutations allows the recognition of new mechanisms of functional disturbances of factor VIII. To screen for mutations exons 1-26 of the factor V

Mutation analysis of the connexin 32 (Cx
Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations
✍ Eva Nelis; Sandra Simokovic; Vincent Timmerman; Ann Löfgren; Hubert Backhovens; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB 👁 2 views

The coding region of Cx32 was amplified by touchdown polymerase chain reaction (PCR) (Don et al., 1991). Three primer sets were used corresponding to nucleotides 54-77 (CX32-1) and 336-359 (CX32-2), i.e., part 1, 273-269 (Cx32-3) and 685-704 (Cx32-5), i.e., part 2, and 635-658 (Cx32-S1) and 919-938

Detection of known and new mutations in
Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis
✍ Catherine Spire-Vayron de la Moureyre; Hervé Debuysère; Nadda Sabbagh; Delphine 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 467 KB 👁 2 views

To detect mutations in the thiopurine S-methyltransferase gene (TPMT), we have developed a strategy based on single-strand conformation polymorphism (SSCP) analysis of the gene amplified by polymerase chain reaction (PCR). The sensitivity of the method was first evaluated by analyzing DNA samples fr

A new case of HDR syndrome with severe f
A new case of HDR syndrome with severe female genital tract malformation: Comment on “Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations” by Hernández et al.
✍ Oana Moldovan; Raquel Carvalho; Zulmira Jorge; Ana Medeira 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 1 views