Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene

Content Provider	Scilit
Author	Gandrille, Sophie Borgel, Delphine Eschwege-Gufflet, V. Aillaud, M. Dreyfus, M. Matheron, C. Gaussem, Pascale Abgrall, Jf Jude, B. Sie, Pierre
Copyright Year	1995
Description	To screen for point mutations causing protein S deficiency, we used a sequence of techniques specifically for the study of the protein S active gene, PS alpha. This strategy comprises amplification of exons and intron/exon junctions by means of the polymerase chain reaction (PCR) and electrophoresis of the amplified fragments in polyacrylamide gel containing a gradient of denaturing agents (denaturing gradient gel electrophoresis). Only fragments with altered melting behavior are sequenced after asymmetric PCR. Beside the frequent polymorphism already described on Pro 626, we detected 18 different sequence variations by studying exons II, IV, V, VIII, X, and XV in 19 of 100 consecutive patients with protein S deficiency. Fifteen were candidate causal mutations, 4 of which were associated with a qualitative deficiency (type IIa or IIb). The remaining three sequence variations were probably polymorphisms.
Related Links	https://ashpublications.org/blood/article-pdf/85/1/130/613739/130.pdf
Ending Page	138
Page Count	9
Starting Page	130
DOI	10.1182/blood.v85.1.130.bloodjournal851130
Journal	Blood
Issue Number	1
Volume Number	85
Language	English
Publisher	American Society of Hematology
Publisher Date	1995-01-01
Access Restriction	Open
Subject Keyword	Medical Laboratory Technology Pcr Electrophoresis Polymorphisms Gel Denaturing Patients with Protein S Deficiency Journal: Blood (Vol- 8, Issue- 1)
Content Type	Text
Resource Type	Article