Rezultati genotipizacije Heterozygote/Heterozigot Homozygote
/Homozigot A1A2 A1A1 A2A2 6 samples/6 uzoraka 1 sample/1 uzorak 3 samples/3 uzorka
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.
L: Ladder 100bp; C+: positive control; C-: negative control; CC: cleavage control; S1: homozygote
genotype AA; S2: heterozygote genotype AG; S3: homozygote
genotype GG; S4: homozygote
genotype AA; S5: heterozygote genotype AC; S6: homozygote