Relationship between methylenetetrahydrofolate reductase gene C677T position polymorphism and intracerebral hemorrhage in southern Chinese Han population / 临床神经病学杂志

Objective To explore the relationship between methylenetetrahydrofolate reductase(MTHFR)gene C677T position polymorphism and intracerebral hemorrhage(ICH)in southern Chinese Han population.Methods The MTHFR gene polymorphism were detected in 124 ICH patients(ICH group)and 149 control subjects(normal control group)who were southern Chinese Han population by SNaPshot technique.Results Compared with normal control group,the frequencies of T allele in ICH group and nonlobar ICH subgroup were significantly higher(all P<0.05);and there was no statistical significance of frequencies of C allele in ICH group and nonlobar ICH subgroup, and frequencies of T, C allele in lobar ICH subgroup(all P>0.05).There was no statistical significance of genotype frequency in ICH group, nonlobar ICH subgroup, lobar ICH subgroup and normal control group. Unconditional Logistic regression showed MTHFR gene C677T position polymorphism had no correlation with ICH group and its subgroup(all P>0.05).After confounding factors correction, ICH and nonlobar ICH subtype were significantly associated with T alleles(OR=3.77,95%CI:1.40-10.16,P=0.01;OR=4.19,95%CI:1.30-13.46,P=0.02),and lobar ICH subtype had no correlation with T allele(OR=2.31,95%CI:0.37-14.49,P=0.37).Conclusion MTHFR gene C677T position mutation T allele may be an important risk factor for ICH in the southern Chinese Han population.

Association between mRNA level of Pde4d and Alox5ap and hypertensive stroke as well as hypertension in rats / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate whether mRNA levels of Pde4d and Alox5ap were associated with hypertensive stroke and hypertension in stroke-prone renovascular hypertensive rats (RHRSP) which could simulate human being's hypertensive cerebral stroke.</p><p><b>METHODS</b>Five groups were established: normotensive group, gradient hypertensive groups I, II and III(with contractive pressure of 140-159 mmHg, 160-179 mmHg and 180-199 mmHg respectively) and spontaneous stroke group. RNA from leukocytes in peripheral blood of each rat underwent real time PCR after reversed.</p><p><b>RESULTS</b>The mRNA levels of Pde4d and Alox5ap of spontaneous stroke group were statistically higher than that of the other groups. Expression of Pde4d of hypertensive group I was a bit higher than that of normotensive group and hypertensive groups II and III; as for Alox5ap, there was no statistical difference between normotensive group and all gradient hypertensive groups.</p><p><b>CONCLUSION</b>Animal experiments come to conclusions that over-expression of Pde4d and Alox5ap are associated with hypertensive stroke but not with hypertension. Therefore, the two genes confer the risk of hypertensive stroke independent of traditional risk factors. It is speculated that over-expression of Pde4d and Alox5ap can motivate onset of hypertensive cerebral stroke by participating in inflammation of arterial walls.</p>

Cultured human embryonic neocortical cells survive and grow in infarcted cavities of adult rat brains and interconnect with host brain / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>There are no reports on exnografting cultured human fetal neocortical cells in this infracted cavities of adult rat brains. This study was undertaken to observe whether cultured human cortical neurons and astrocytes can survive and grow in the infarcted cavities of adult rat brains and whether they interconnect with host brains.</p><p><b>METHODS</b>The right middle cerebral artery was ligated distal to the striatal branches in 16 adult stroke-prone renovascular hypertensive rats. One week later, cultured cells from human embryonic cerebral cortexes were stereotaxically transferred to the infarcted cavity of 11 rats. The other 5 rats receiving sham transplants served as controls. For immunosuppression, all transplanted rats received intraperitoneal injection of cyclosporine A daily starting on the day of grafting. Immunohistochemistry for glial fibrillary acidic protein (GFAP), synaptophysin, neurofilament, and microtubule associated protein-2 (MAP-2) was performed on brain sections perfused in situ 8 weeks after transplantation.</p><p><b>RESULTS</b>Grafts in the infarcted cavities of 6 of 10 surviving rats consisted of bands of neurons with an immature appearance, bundles of fibers, and GFAP-immunopositive astrocytes, which were unevenly distributed. The grafts were rich in synaptophysin, neurofilament, and MAP2-positive neurons with long processes. The graft/host border was diffuse with dendrites apparently bridging over to the host brain, into which neurofilament immunopositive fibers protruded.</p><p><b>CONCLUSION</b>Cultured human fetal brain cells can survive and grow in the infarcted cavities of immunodepressed rats and integrate with the host brain.</p>

Comparison and analysis of the molecular character of breakpoints in introns of deletion hotspots of dystrophin gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the exons deletion mechanisms for dystrophin gene, the molecular characters of breakpoints of junction fragments for deletion-type Duchenne muscular dystrophy (DMD) patients with 46 and 51 exons deletion were compared and analyzed.</p><p><b>METHODS</b>Deletion-type DMD patients were detected by multiplex polymerase chain reaction(mPCR). The breakpoints of junction fragments with 46 and 51 exons deletions were cloned and sequenced respectively.</p><p><b>RESULTS</b>Analysis of sequences of deletion-junction fragment of exon 46 showed that the 5'breakpoint was located in AT-rich region of intron 45 and the 3' breakpoint was in medium reiteration repeats (MER1) sequence. There existed 2 bp(ta) junction homology between two breakages. No small insertion, small deletion or point mutation was located near the junction point. Similarly, analysis of sequences of deletion-junction fragment of exon 51 showed that the 5 breakpoint was located in transposon-like human elements (THE1) of intron 50 and the 3' breakpoint was in L2 sequence. There existed 3 bp(cta) junction homology between two breakages. No small insertion, small deletion or point mutation was located near the junction point. By analyzing the secondary structure of junction fragments with 46 and 51 exons deletions, it was demonstrated that all breakpoints of junction fragments were located at the non-matching regions of single-strand hairpin.</p><p><b>CONCLUSION</b>By comparing the junction fragments with 46 or 51 exons deletion, it was found that all of breakpoints were located in repeat sequences and the repeat sequences formed the single-strand hairpin which could make the introns instable and result in exon deletion.</p>