Prevalence of Factor V Leiden G1691A and Prothrombin G20210A Gene Mutation Among Pregnant Women: Experience from a Multi-Center Study in Nigeria

Figures & data

Table 1 rhAmp SNP Assay Design

Gene Name	SNP ID	Primer Name	Sequence
F5	rs6025	Allele Primer 1	/rhAmp-F/AAGGACAAAATACCTGTATTCCTCrGCCTG/GT1
		Allele Primer 2	/rhAmp-Y/AAGGACAAAATACCTGTATTCCTTrGCCTG/GT1/
		Locus Primer	GCCCAGTGCTTAACAAGACCATrACTAC/GT4/
F2	rs1799963	Allele Primer 1	/rhAmp-F/CCAATAAAAGTGACTCTCAGCGrAGCCT/GT3/
		Allele Primer 2	/rhAmp-Y/CCAATAAAAGTGACTCTCAGCArAGCCT/GT3/
		Locus Primer	GCAGCTGCCCATGAATAGCArCTGGG/GT4

Table 2 Sociodemographic Characteristics of Study Participants

Characteristics	N (%)
Age (Year ±SD)	31.9 ± 5.2
Gestational age (median, IQR) weeks	20 (17–26)
Parity (median, IQR)	1 (0–2)
Primigravidae	110 (27.5)
Multigravida	290 (72.5)
Ethnicity
Igbo	150 (39.6)
Yoruba	225 (59.4)
Hausa	4 (1.1)

Table 3 Targeted Single Nucleotide Polymorphisms

Polymorphism	rsSNP	Gene Name	Symbol	Protein Change	Gene Consequence
20210G-A	rs1799963	Coagulation factor II, thrombin	F2	None	3 Prime UTR Variant
FV Leiden	rs6025	Coagulation factor V	F5	R (Arg) > Q (Gln)	Missense Variant

Abbreviations: rs, reference single nucleotide polymorphism; UTR, untranslated region; Arg, arginine; Gln, glutamine.

Table 4 Frequency of Normal and Mutant Genotypes in Study Population

Polymorphism	Normal (%)	Heterozygote (%)	Homozygote (%)
F2 (n=389)	389 (100)	0	0
FV (n=397)	394 (99.2)	3 (0.76)	0

Abbreviations: F2, factor II; FV, factor V.

Table 5 Characteristics of Participants with FVL Heterozygote Mutation

Characteristics	Participant A	Participant B	Participant C
Age (years)	35	27	31
Ethnicity	Yoruba	Yoruba	Igbo
Blood group	O Positive	AB positive	O Positive
Hemoglobin Genotype	AA	AA	AA
Parity	2	1	2
Birth weight (gm)	3420	3100	2200, 2500
Type of Pregnancy	Singleton	Singleton	Multiple
Mode of delivery	Normal delivery	Caesarean section	Caesarean section
Perinatal outcome	Alive	Alive	Alive