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Gene analysis and prenatal diagnosis for two families of congenital factor V deficiency
Author(s) -
CAO L.,
WANG Z.,
LI H.,
WANG W.,
ZHAO X.,
ZHANG W.,
DING J.,
RUAN C.
Publication year - 2011
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2010.02369.x
Subject(s) - missense mutation , proband , medicine , prenatal diagnosis , exon , fetus , chorionic villus sampling , cord blood , chorionic villi , mutation , pregnancy , obstetrics , genetics , gene , biology
Summary. We studied two families in which the probands had severe bleeding tendency and showed low plasma levels of coagulation factor V (FV) antigen and activity. Sequence analysis of the FV gene on proband 1 demonstrated a novel G16088C homozygous missense mutation in exon 3 resulting in an Asp 68 to His substitution and on proband 2, a C69969T homozygous missense mutation in exon 23 leading to Gly2079Val. The parents of both families were each heterozygous for the corresponding FV gene defect. During their second pregnancy, the two families requested prenatal diagnosis. Chorionic villi were analysed at 12 weeks of gestation and cord blood samples were tested at 22 weeks. Microsatellite analysis performed in family 1 showed that the foetus sample was not contaminated by maternal tissue. The foetus 1 was found to be heterozygous for the familiar G16088C mutation with lower FV activity in the cord blood; the foetus 2 was a normal one. The diagnosis was confirmed after the birth. This is the first report of prenatal diagnosis for FV deficiency.