Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency - Misdiagnosis by direct sequence analysis using a PCR product

Prenatal Diagnosis

Volumn 23, Issue 9, 2003, Pages 731-734

  Garagiola, Isabella ^a   Palla, Roberta ^a   Peyvandi, Flora ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Factor VII; Misdiagnosis; PCR error

Indexed keywords

BLOOD CLOTTING FACTOR 7;

ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA PRIMERS; FACTOR VII; FACTOR VII DEFICIENCY; FALSE POSITIVE REACTIONS; FEMALE; GENETIC COUNSELING; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0141633916     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.679     Document Type: Article

References (11)

1. Arbini AA, Bodkin D, Lopaciuk S, Bauer KA. 1994. Molecular analysis of Polish patients with factor VII deficiency. Blood 84: 2214-2220.
2. Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S. 1991. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler Thromb 11: 540-546.
3. Handyside AH, Kontogianni EH, Hardy K, Winstonn RM. 1990. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768-770.
4. Kunkel TA, Alexander PS. 1986. The base substitution fidelity of eucaryotic DNA polymerases. J Biol Chem 5: 160-166.
5. Kunkel TA. 1990. Misalignment-mediated DNA synthesis errors. Biochemistry 29: 8003-8011.
6. Marchetti G, Gemmati D, Patracchini P, Pinotti M, Bernardi F. 1991. PCR detection of a repeat polymorphism within the F7 gene. Nucleic Acid Res 19: 4570.
7. Marchetti G, Patracchini P, Gemmati D, et al. 1992. Detection of two missense mutations and characterisation of a repeat polymorphism in the factor VII gene (F7). Hum Genet 89: 497-502.
8. Marchetti G, Patracchini P, Papacchini M, Ferrati M, Bernardi F. 1993. A polymorphism in the 5′ region of coagulation factor VII gene (F7) caused by an inserted decanucleotide. Hum Genet 90: 575-576.
9. Miller I, Djkes DD. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16: 1215-1220.
10. Pääbo S, IrWin DM, Wilson AC. 1990. DNA damage promotes jumping between templates during enzymatic amplification. J Biol Chem 15: 4718-4721.
11. Sermon K. 1993. Diagnostic accuracy in preimplantation diagnosis single-cell PCR for Mendelian disorders. In Fertility and Reproductive Medicine. Proceedings of the XVI World Congress on Fertility and Sterility, San Francisco, 4-9 October 1998, Kempers R, Cohen J, Haney AF, Younger JB (eds). Elsevier: Amsterdam; 687-695.