Screening Abnormal Hemoglobin Diseases for Couples of Childbearing Age in Guangzhou City by HPLC / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the incidence and common types of abnormal hemoglobin diseases of the couples at childbearing age by using high performance liquid chromatography (HPLC) in Guangzhou city.</p><p><b>METHODS</b>The couple of childbearing age in the Birth defect intervention project and Free pre pregnancy health examination were screened from October 2008 to February 2016 in Guangzhou city. The HPLC was used to detect abnormal hemoglobin; The Gap-PCR and reverse dot blot(RDB) were used to detect thalassemia gene deletions.</p><p><b>RESULTS</b>The detection rate of hemoglobinopathies was 1.14% in the couples of childbearing age in Guangzhou city. 8 kinds of abnormal hemoglobin were detected: Hb E in 102 cases(17 cases with α thalassemia) , Hb Q-Thailand in 20 cases(18 cases with α thalassemia, 2 cases with α and β thalassemia), Hb D-Iran in 4 cases(2 cases with α thalassemia, 1 case with α and β thalassemia), Hb G-Honolulu in 3 cases(1 case with α thalassemia), Hb J-Bangkok in 2 cases(2 cases with α thalassemia), Hb Osu-Christiansborg in 1 case(with α thalassemia), Hb Hasharon in 1 case(with α thalassemia), Hb Koln in 1 case(with α thalassemia).</p><p><b>CONCLUSION</b>The incidence of abnormal hemoglobin diseases in Guangzhou area has been found to be more high, 8 kinds of abnormal hemoglobin are found by HPLC, the HPLC is an effective way to screen the couples of childbearing age for β thalassemia and hemoglobinopathies.</p>

Construction and identification of the expression plasmid of SK2 (KCNN2) gene from human atrial myocytes with overlapping PCR / 中国应用生理学杂志

<p><b>OBJECTIVE</b>Small conductance calcium activated potassium channels type 2 (SK2) play a crucial role in atrial repolarization. It is difficult to acquire the full-length of its coded gene KCNN2 by RT-PCR with one step. We aim to get the full-length of KCNN2 gene and construct the plasmid by Overlapping PCR, and further more discuss the application of Overlapping PCR.</p><p><b>METHODS</b>Total RNA was extracted from human right atrial tissue and cDNA was acquired with reverse transcription. Overlapping PCR was conducted with three pairs of primers which were designed according to the sequence of KCNN2 (AY258141) gene. The expression plasmid of pIRES-hrGFP-SK2 was constructed by directed cloning with restriction enzyme site and identified by enzyme cutting and sequencing.</p><p><b>RESULTS</b>Three parts of PCR amplification were consistent with predicted size. The sequence of the plasmid was consistent with the gene-bank data except two sites, however, which were the same as gene in different tissues.</p><p><b>CONCLUSION</b>The expression plasmid pIRES-hrGFP-SK2 was constructed successfully. Overlapping PCR is a good choice for amplifying these genes with long size or low expression.</p>

Population intervention of thalassemia relying on family planning service system / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system.</p><p><b>METHODS</b>Pregnant women and their husbands were educated about thalassemia, and participated in screening and prenatal diagnosis if the couple were carriers of thalassemia in the areas of Huangpu, Panyu, Zengcheng and Tianhe districts of Guangzhou.</p><p><b>RESULTS</b>The network of thalassemia intervention mainly dependent on family planning service system was set up in these regions. A total of 10 695 families participated in thalassemia screening and 16 thalassemia major fetuses were diagnosed in the last two years. No one was thalassemia major in the 8360 newborn.</p><p><b>CONCLUSION</b>Thalassemia population intervention model was set up relying on family planning service system and it significantly decreased the birth of thalassemia major.</p>

Atrial myocytes KChIP2 mRNA expression in rheumatic heart disease patients with atrial fibrillation / 中华心血管病杂志

<p><b>OBJECTIVE</b>To detect the KChIP2 mRNA level in rheumatic heart disease patients with or without atrial fibrillation (AF) by real-time PCR.</p><p><b>METHODS</b>Right atrial appendage samples from rheumatic heart disease patients with (n = 17) or without AF (n = 13) were obtained during cardiac surgery. Total RNA was extracted from the atrial tissues, and the KChIP2 and Kv4.3 mRNA were detected by SYBR Green I real-time PCR with the GAPDH as the house keeping gene.</p><p><b>RESULT</b>The ratio of KChIP2/GAPDH (0.1468 +/- 0.0452 vs. 0.2200 +/- 0.0388, P<0.01) and the ratio of Kv4.3/GAPDH (0.3946 +/- 0.1826 vs. 0.5257 +/- 0.1427, P<0.05) were significantly lower in AF patients compared to non-AF patients.</p><p><b>CONCLUSION</b>Down-regulated atrial KChIP2 and Kv4.3 mRNA expressions in rheumatic heart disease patients with chronic AF might be one of the molecular bases responsible for the down-regulation of the I(to) current density of AF.</p>