TY - JOUR
T1 - The factor V Leiden mutation is not a common cause of recurrent miscarriage
AU - Dizon-Townson, Donna S.
AU - Kinney, Sonja
AU - Ware Branch, D.
AU - Ward, Kenneth
N1 - Funding Information:
This work was supported by a grant from The Willard L. Eccles Charitable Trust and a grant from the National Institutes of Health (1RO1-HD 32170-01). Dr Ward is an Investigator in the Eccles Program in Human Molecular Biology and Genetics. This investigation was also supported by Public Health Services research grant no. M01-RR00064 from the National Center for Research Resources.
PY - 1997/10
Y1 - 1997/10
N2 - Some investigators suggest that placental thrombosis and infarction can cause recurrent miscarriage. We have shown that the common missense mutation in the factor V gene, the Leiden mutation, which renders factor Va resistant to cleavage inactivation by activated protein C, predisposes to placental thrombosis and spontaneous miscarriage. Our objective was to determine the frequency of the Leiden mutation in a population with well-characterized idiopathic recurrent miscarriage. DNA was extracted from whole blood of 40 couples with a history of idiopathic recurrent miscarriage and 25 couples with a history of proven fertility (seven or more live births). The polymerase chain reaction was used to amplify exon 10 of the factor V gene followed by allele-specific restriction with iMl1 for mutation detection. Results were analyzed with a χ2 contingency table. None of the 40 women with idiopathic recurrent miscarriage carried the mutation and only one of their reproductive partners was heterozygous for the mutation. Similarly, none of the control women carried the mutation, and only one of the 25 control male partners was heterozygous for the mutation. In our referral population, the factor. V Leiden mutation which predisposes to thrombosis is not a common cause of recurrent miscarriage.
AB - Some investigators suggest that placental thrombosis and infarction can cause recurrent miscarriage. We have shown that the common missense mutation in the factor V gene, the Leiden mutation, which renders factor Va resistant to cleavage inactivation by activated protein C, predisposes to placental thrombosis and spontaneous miscarriage. Our objective was to determine the frequency of the Leiden mutation in a population with well-characterized idiopathic recurrent miscarriage. DNA was extracted from whole blood of 40 couples with a history of idiopathic recurrent miscarriage and 25 couples with a history of proven fertility (seven or more live births). The polymerase chain reaction was used to amplify exon 10 of the factor V gene followed by allele-specific restriction with iMl1 for mutation detection. Results were analyzed with a χ2 contingency table. None of the 40 women with idiopathic recurrent miscarriage carried the mutation and only one of their reproductive partners was heterozygous for the mutation. Similarly, none of the control women carried the mutation, and only one of the 25 control male partners was heterozygous for the mutation. In our referral population, the factor. V Leiden mutation which predisposes to thrombosis is not a common cause of recurrent miscarriage.
KW - Factor V Leiden mutation
KW - Recurrent miscarriage
KW - Thrombosis
UR - http://www.scopus.com/inward/record.url?scp=0030797916&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030797916&partnerID=8YFLogxK
U2 - 10.1016/S0165-0378(97)00039-9
DO - 10.1016/S0165-0378(97)00039-9
M3 - Article
C2 - 9350638
AN - SCOPUS:0030797916
SN - 0165-0378
VL - 34
SP - 217
EP - 223
JO - Journal of Reproductive Immunology
JF - Journal of Reproductive Immunology
IS - 3
ER -