A Novel Mutation of Arg306 of Factor V Gene in Hong Kong Chinese

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A Novel Mutation of Arg306 of Factor V Gene in Hong Kong Chinese by W.P. Chan, C.K. Lee, Y.L. Kwong, C.K. Lam, and Raymond Liang Blood Volume 91(4):1135-1139 February 15, 1998 ©1998 by American Society of Hematology

DGGE of the amplified exon 10 of factor V gene. DGGE of the amplified exon 10 of factor V gene. Lanes 1 and 3, contol with a homozygosity for G1691→A mutation. Lane 2, control with a heterozygosity for G1691→A mutation. Lane 8, normal control. Lanes 9 and 11, homozygous for G1628→A mutation. Lanes 4 through 7, 10, and 12, heterozygous for G1628→A mutation. (Upstream primer, GC40-TCAGG CAGGA ACAAC ACCAT; downstream primer, GGTTA CTTCA AGGAC AAAAT.). W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology

DGGE of the amplified exon 7 of factor V gene. DGGE of the amplified exon 7 of factor V gene. Lane 1, normal control. Lanes 2 through 7, thrombotic patients. Lane 2 shows the heteroduplexes as the result of a heterozygous A1090→G mutation. (Upstream primer, [GC-40]-TGTCC TAACT CAGCT GGGAT; downstream primer, gtatg aaccc caaca actca.)‏ W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology

DNA sequence analysis of an abnormal amplified fragment of exon 7 of factor V gene. DNA sequence analysis of an abnormal amplified fragment of exon 7 of factor V gene. A heterozygous A1090→G mutation was identified. W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology

Polyacrylamide gel electrophoresis following theBstNI restriction enzyme digest of a 240-bp DNA fragment of exon 7 of factor V gene. Polyacrylamide gel electrophoresis following theBstNI restriction enzyme digest of a 240-bp DNA fragment of exon 7 of factor V gene. Lane M, molecular weight marker. Lane 1,BstNI-digested sample from a normal control showing the two DNA fragments, 100 and 140 bp. Lane 2, BstNI-digested sample from a thrombotic patient heterozygous for A1090→G mutation. It shows three DNA fragments: 100, 140, and 240 bp. Lane 3,BstNI-digested sample from a thrombotic patient without the A1090→G mutation. Similar to lane 1, it shows only 2 DNA fragments, 100 and 140 bp. (Upstream primer, [GC-40]-TGTCC TAACT CAGCT GGGAT; downstream primer, gtatg aaccc caaca actca.)‏ W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology