Molecular basis of hereditary factor V deficiency in India: Identification of four novel mutations and their genotype-phenotype correlation

Thrombosis and Haemostasis

Volumn 105, Issue 6, 2011, Pages 1120-1123

  Chapla, Aaron ^a   Jayandharan, Giridhara Rao ^a   Sumitha, Elayaperumal ^a   Devi, Govindanattar Sankari ^a   Shenbagapriya, Paneerselvam ^a   Nair, Sukesh Chandran ^a   Viswabandya, Auro ^a   George, Biju ^a   Mathews, Vikram ^a   Srivastava, Alok ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DNA POLYMORPHISM; FEMALE; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; INDIA; INFANT; LETTER; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTHROMBIN TIME; SCHOOL CHILD; SEQUENCE ANALYSIS;

CHILD, PRESCHOOL; CONSANGUINITY; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FACTOR V; FACTOR V DEFICIENCY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HEMORRHAGE; HUMANS; INDIA; INFANT; MALE; MUTATION; POPULATION GROUPS; PROGNOSIS;

EID: 79958118136     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-11-0767     Document Type: Letter

References (16)

1. Koeleman BP, et al. Location on the human genetic linkage map of 26 genes involved in blood coagulation. Thromb Haemost 1997; 77: 873-878.
2. Jenny RJ, et al. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-4850.
3. Zheng W, et al. Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency. Thromb Haemost 2010; 104: 536-543.
4. Vos HL. An online database of mutations and polymorphisms in and around the coagulation factor V gene. J Thromb Haemost 2007; 5: 185-188.
5. Acharya SS, et al. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248-256.
6. Quick AJ. The assay and properties of labile factor (factor V). J Clin Pathol 1960; 13: 457-462.
7. Delev D, et al. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia 2009; 15: 1143-1153.
8. Williams IJ, et al. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998; 79: 723-726.
9. Jayandharan G, et al. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia 2005; 11: 481-491.
10. Orban T, et al. Completed three-dimensional model of human coagulation factor va. Molecular dynamics simulations and structural analyses. Biochemistry 2005; 44: 13082-13090.
11. Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002; 12: 436-446.
12. Ramensky V, et al. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30: 3894-3900.
13. Sunyaev S, et al. Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet 2000; 16: 198-200.
14. Sunyaev S, et al. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10: 591-597.
15. Majumder R, et al. The phosphatidylserine binding site of the factor Va C2 domain accounts for membrane binding but does not contribute to the assembly or activity of a human factor Xa-factor Va complex. Biochemistry 2005; 44: 711-718.
16. Delev D, et al. Modelling and expression studies of two novel mutations causing factor V deficiency. Thromb Haemost 2008; 100: 766-772.