Placental Foxp3 expression in patients with preeclampsia and correlation of Foxp3 gene locus 924 (rs2232365) polymorphism with preeclampsia / 南方医科大学学报

<p><b>OBJECTIVE</b>To detect changes of Foxp3 expression in the decidua in patients with preeclampsia and investigate the correlation of Foxp3-924 (rs2232365) polymorphisms with preeclampsia.</p><p><b>METHODS</b>From October 2011 to December 2012, 252 normal pregnant women and 156 preeclampsia patients of Han nationality from the same geographic region were tested for Foxp3-924 genotypes by polymerase chain reaction with sequence-specific primer (PCR-SSP). Sixty-eight of the patients with preeclampsia (33 with mild and 35 with severe preeclampsia) and 30 of the normal pregnant women were also examined for Foxp3 expression in the decidua using immunohistochemical method.</p><p><b>RESULTS</b>Foxp3 positive expression rates in the decidua was 51.52% in mild preeclampsia and 28.57% in severe preeclampsia cases, significantly lower than that in the control group (86.67%, P<0.05). In preeclampsia patients, the frequencies of Foxp3-924G/G, G/A, and A/A genotypes were 0.1346, 0.4615 and 0.4038, respectively, and the frequencies of Foxp3-924A and Foxp3-924 G were 0.6346 and 0.3654, respectively. The genotype frequencies of Foxp3-924G/G, G/A and A/A in the control group were 0.1508, 0.4087 and 0.4405, respectively, and the frequencies of Foxp3-924 A and Foxp3-924 G were 0.6448 and 0.3552, respectively. No significant differences were found in the gene frequencies of Foxp3-924G/A between preeclampsia patients and the control group (P>0.05).</p><p><b>CONCLUSION</b>The expression level of Foxp3 in the placental tissue of preeclampsia patients is significantly lower than that in normal pregnant women, suggesting that lowered Foxp3 expression decreases the immunosuppressive function and causes imbalance of immune tolerance between maternal-fetal to induce preeclampsia. Foxp3-924 polymorphisms is not significantly correlated with the occurrence of preeclampsia.</p>

Expression of iNOS in the testis of Fmr1 knockout mice in different developmental stages / 中华男科学杂志

<p><b>OBJECTIVE</b>To analyze the expression of inducible nitric oxide synthase (iNOS) in the testis tissues of Fmr1 (fragile X mental retardation 1) knockout and wild-type male mice in different developmental stages, and provide background information for researches on fragile X syndrome.</p><p><b>METHODS</b>This study included 4, 6, 8 and 10 weeks old Fmr1 knockout and wild-type male mice, 6 in each age group. We identified the genotype of the mice by PCR, and detected and compared the expression of iNOS in the testis tissues of the Fmr1 knockout and wild-type mice by immunohistochemistry.</p><p><b>RESULTS</b>The iNOS expression was weakly positive in the Leydig cells of the 4-week-old mice, moderately positive in the 6-week-old ones, and strongly positive in 8- and 10-week-old ones, significantly weaker in the Fmr1 knockout than in the wild-type ones.</p><p><b>CONCLUSION</b>The expression of iNOS significantly decreases in the testis of Fmr1 knockout mice, suggesting that iNOS may be involved in the pathogenesis of fragile X syndrome.</p>

Investigating the correlation between polymorphisms with couple sharing rate of TAP gene and hypertensive disorder complicating pregnancy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate and clarify whether the genetic susceptibility to women with hypertensive disorder complicating pregnancy or pre-eclampsia is associated with polymorphisms and couple sharing rate of transporter associate with antigen processing genes(TAP).</p><p><b>METHODS</b>One hundred and two severe pre-eclampsia women and their spouses served as study group, and 200 normal pregnant women and their spouses were selected as control group. All pregnant women were primipara with single fetus. Genomic DNA was extracted from 2 mL cubital venous blood. We used the amplification refractory mutation system polymerase chain reaction(ARMS-PCR) to characterize TAP gene locus 333, 637, 379, 565, 665.</p><p><b>RESULTS</b>We observed eleven TAP haplotypes. There were four kinds of haplotypes(1A-1D) existing in TAP1, and seven kinds of haplotypes(2A-2G) existing in TAP2. The gene frequencies of TAP2B(Chi2=9.19, P<0.01, RR=4.18) and TAP2F(Chi2=5.34, P<0.05, RR=4.63) of patient group with pre-eclampsia were significantly higher as compared with control group. The analyses of some TAP haplotypes such as TAP1B(Chi2=4.87, P<0.05, RR=3.14), TAP1C(Chi2=5.42, P<0.05, RR=4.90), TAP2B(Chi2=9.65, P<0.01, RR=5.39) showed that the couple sharing rate of pre-eclampsia women and their spouses had statistically a highly significant increase in comparison with that of controls.</p><p><b>CONCLUSION</b>Our data suggest that the presence of TAP2B or TAP2F haplotypes should be considered as a risk increased to pregnant women being susceptible to hypertensive disorder complicating pregnancy; and also the elevated couple sharing rates of TAP1B, TAP1C and TAP2B genes will increase the opportunity or possibility of pregnant women suffering from pre-eclampsia disease.</p>

HLA-DM gene polymorphism in Cantonese with condyloma acuminata / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the polymorphism of HLA-DM gene in Cantonese patients with condyloma acuminata(CA) and determine the susceptible genetic factors of CA.</p><p><b>METHODS</b>DMA and DMB typing was performed in 98 Cantonese patients with CA and 93 healthy controls using restriction fragment length polymorphism method.</p><p><b>RESULTS</b>The gene frequencies of DMA*0101 and DMB*0101 were significantly higher in the patients than in the controls (P<0.05 and P<0.01, respectively), and gene frequency of DMA*0102 was lower in patients than in the controls (P<0.01). Genotype frequencies of HLA-DM showed no significant difference between CA patients and the controls (P>0.05).</p><p><b>CONCLUSION</b>DMA*0101 and DMB*0101 alleles may be the susceptibility genes or closely linked to the susceptibility gene in Cantonese patients with CA.</p>