alexa Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity.
Pediatrics

Pediatrics

Journal of Neonatal Biology

Author(s): Murray JM, Rand MD, Egan JO, Murphy S, Kim HC,

Abstract Share this page

Abstract We have characterized the factor V protein and cDNA of a patient displaying factor V deficiency (parahemophilia) and correlated the reduced activity with a missense mutation of Ala221-to-Val. Plasma from the subject individual (C1) presented reduced factor V antigen (39\% of normal) that displayed reduced activity (approximately 26\% of normal). Factor V purified from this individual by standard techniques shows normal migration on sodium dodecyl sulfate gels and a normal pattern of activation by thrombin. Purified antigen from sibling C2 gives a much reduced specific activity of 263 U/mg (17\% of normal). Sibling C3, the mother, and the father have antigen within the normal range (57\% to 200\%) that has approximately normal specific activity. The cDNA encoding the factor Va heavy and light chains of the subject individual was polymerase chain reaction-amplified and sequenced and revealed an A-to-G substitution at position 3 of codon 51 (silent mutation), a C-to-T substitution in position 2 of codon 221 (Ala221-Val), a T-to-C substitution at position 3 of codon 708 (silent mutation), and a G-to-A substitution at position 1 of codon 2185 (Thr2185-Ala). The latter mutation was also observed in control individuals and is proposed to be a possible polymorphism. Restriction analyses demonstrated the presence of one mutant and one normal allele in the father. The subject individual (C1) and sibling C2 carry only the mutant allele. The mother and sibling C3 carry only the normal allele. The inheritance pattern suggests the presence of a missing or nonexpressed allele in the mother that is passed on to all the siblings. Expression of only the mutant allele by the subject individual (C1) and sibling C2 is consistent with reduced factor V antigen and activity in these patients. We have designated this mutant as Factor VNew Brunswick.
This article was published in Blood and referenced in Journal of Neonatal Biology

Relevant Expert PPTs

Recommended Conferences

  • 29th World Neonatal Nursing and Maternal Healthcare Congress
    August 28-30, 2017 Philadelphia, Pennsylvania, USA
  • 2nd International Conference on Pediatric Neurology
    August 31-September 01, 2017 Prague, Czech Republic
  • 10th World Pediatric Congress
    September 28-29, 2017 Dubai, UAE
  • Infancy, Child Nutrition & Development (ICND)
    October 16-18, 2017 (20 Forums, 3 Days- 1 Event) New York, USA
  • 20th International Conference on Neonatology and Perinatology
    December 04-06, 2017 Madrid, Spain

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords