Hence, in wild-type alleles (135 GG), the amplified fragment was digested using Mval (Thermo Scientific, Waltham, MA, USA) producing 86 and 71 bp products, whereas in 135 CC
homozygotes, it was not digested resulting in a single 157 bp product.
In the present study, individuals harboring mutant
homozygote AA showed a more effective response to fentanyl than those with GG or GA.
In agreement with our results, Qi et al, (15) identified TT
homozygote genotype of ABCA1 C-565T polymorphism as a significant risk factor for CAD development.
A significant increased risk in the
homozygote model (GG versus AA: OR= 1.72, 95% CI 1.19-1.49, [P.sub.H] = 0.24) was observed, while no significant association was found in other models (G versus A: OR= 1.08, 95% CI 0.92-1.28, [P.sub.H] = 0.38; GA versus AA: OR = 0.62, 95% CI 0.29-1.35, [P.sub.H] < 0.001; GG + GA versus AA: OR = 0.81, 95% CI 0.66-1.00, [P.sub.H] = 0.17; and GG versus GA + AA: OR= 1.74, 95% CI 0.68-4.49, [P.sub.H] = 0.016).
Frequency Genotype (percent) Heterozygote 17(40) E148Q 7(16) M694V 5(12) M680I(G>C) 2(5) P369S 1(2) V726A 1(2) M694I 1(2) Compound heterozygote 16(37) M694V/R761H 4(9) M694I/R761H 2(5) M680I/E148Q 2(5) M680I/M694V 3(7) P369S/E148Q 1(2) E148Q/M694I 1(2) M694V/V726A 1(2) M680I/R761H 1(2) V726A/R761H 1(2)
Homozygote 9(21) M694V/M694V 4(9) M680I/M680I 3(7) V726A/V726A 2(5) Complex alleles mutations P369S/ E148Q/ E148Q 1(2) Table 2: Frequency of mutations in Familial Mediterranean Fever patients and parents.
In terms of INR levels of the patient group, no statistical difference was found between VKORC 1 and CYP2C9 haplotypes (p=0.305 and p=0.088, respectively), whereas a significant difference was found on weekly warfarin dosages of VKORC 1
homozygote normal GG and CYP2C9 *1/*1
homozygote normal (wild) carriers (p=0.02 and p=0.034, respectively) (Table 4).
The aim of the current study is to isolate homozygous [alpha]GT KO cells from postnatal heterozygous [alpha]GT KO skin fibroblasts and ultimately to evaluate the developmental competence of isolated
homozygote cells after SCNT.
Our selected group c.35delG genotype N (%) (familial cases)
Homozygote WT* 109 (82.6%) Only the deaf Heterozygote 35delG 2 (1.5%)
Homozygote 35delG 21 (15.9%) Total 132
Homozygote WT* 291 (86.3%) All subjects Heterozygote 35delG 25 (74%)
Homozygote 35delG 21 (6.2%) Total 337 *WT: wild type.
Each dot point represents a different
homozygote. Homozygous haplotypes for MPRIP-TCAP region only.
We conclude that the population of Hemiodus orthonops dwelling the upper Parana River basin is genetically structured and they show
homozygote excess probably due to founder effect.