Identification and pedigree analysis of ABO subgroup B303 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular mechanism of a case of ABO discrepancies based on the results of blood group serology.</p><p><b>METHODS</b>Five cases of the two-generation pedigrees were analyzed. ABO genotypes were determined using serological tests. DNA sequence analysis was performed on exon 6, exon 7 and intron 3 of the 5 cases to confirm the genotypes of a proband with B subgroup and 4 family members.</p><p><b>RESULTS</b>There were 3 cases of subgroup AB3 and 1 case of subgroup B3 among the 5 family members. The genotypes were identified as A102/B303 and O02/B303, respectively. B303 differed from B101 by intron 3 point mutation (intron3 + 5G>A).</p><p><b>CONCLUSION</b>The point mutation of intron 3 (intron 3+5G>A) is specific in B303.</p>

Differential expression of ADD3 splicing isoforms between colorectal cancer and normal mucosa tissues / 中国病理生理杂志

AIM:To investigate the relationship between the expression of adducin 3 (ADD3) and its splicing isoforms and colorectal cancer (CRC).METHODS:The expression of ADD3, ADD3-Ia and ADD3-Ib in 50 pair of CRC tissues , 20 pairs of colorectal polyp tissues , and 2 CRC cell lines SW480 and SW620 before and after oxaliplatin or fluoroura-cil intervention were detected by real-time PCR.The cell activity was determined by MTT assay , the cell migration ability was evaluated by wound-healing assay , and the cell invasion ability was measured by Transwell assay .RESULTS:The expres-sion levels of ADD3 and ADD3-Ib were decreased in the CRC tissues as compared with the normal mucous (P<0.01), and ADD3-Ia/Ib ratio was increased in the CRC tissues (P<0.01).The expression level of ADD3-Ia was higher in T3-4 group than that in T1-2 group (P<0.05).Reduced expression of ADD3, ADD3-Ia and ADD3-Ib in colorectal polyps was observed compared with the normal tissues (P<0.01).Compared with the SW480 cells, the expression levels of ADD3-Ia and ADD3-Ib were lower (P<0.05) and the ADD3-Ia/Ib ratio was higher (P <0.01) in the SW620 cells.After treated with oxalipla-tin or fluorouracil, the cell activity, migration and invasion in the SW620 and SW480 cells were weakened accompanied by the increases in the expression levels of ADD 3, ADD3-Ia and ADD3-Ib to various certain extents .CONCLUSION:In CRC there is a tendency that ADD3-Ib reduction leads to ADD3 decrease, accompanied by an increased ADD3-Ia/Ib ratio.The expression changes of ADD 3 and its splicing isoforms in the CRC may be relevant to its invasion ability .

Relationship between plasma D-dimer level and diagnosis of pulmonary embolism / 心血管康复医学杂志

Objective:To explore the relationship among clinical manifestations ,SⅠ QⅢ TⅢ feature of ECG ,plasma level of D‐dimer (DD) and diagnosis of pulmonary embolism (PE) .Methods :Clinical data of 212 inpatients ,who received pulmonary CT angiography (CTA) in our hospital from Jun 2012 to May 2014 ,were retrospectively ana‐lyzed .According to pulmonary CTA results ,patients were divided into PE group (n=56) and non‐PE group (n=156) .Basic hospitalization data ,including clinical manifestations ,ECG features and plasma DD level ,were collect‐ed and compared between two groups .Results:Compared with non‐PE group ,there were significant rise in percent‐ages of dyspnea (44.87% vs .75% ) and prolonged bedridden time (3.85% vs .14.29% ) ,significant reduction in percentage of no clinical manifestations (38.46% vs .3.57% ) in PE group , P10μg/ml significantly rose (19.23% vs .32.14% ) in PE group ,P 10 μg/ml) should be considered to be PE .