Gene Analysis of Thalassemia in Han and Dai Ethnic Childbearing-aged Population of Chinese Yunnan Province / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the common mutation spectrum of α- and β-thalassemia in Yunnan childbearing-aged population.</p><p><b>METHODS</b>The common mutation types of α- or β-globin genes were detected by multiple Gap-PCR and the PCR-reversed dot blotting, and the unknown mutation types were determined by DNA sequencing in DNA samples of hypochromic microcytic anemia patients and carriers who were confirmed to be positive by serologic screaning, then the mutation types of globin in Yunnan population were analyzed statistically.</p><p><b>RESULTS</b>A total of 40 kinds of mutation types were detected in 685 detected persons, among them the 3 commonest mutation types of α-globin genes were --(SEA)/αα (49.09%), -α(3.7)/αα (36.67%) and α(CS)α/αα (8.79%), the 3 commonest genetypes of β-globin gene were CD26(GAG>AAG)/N (43.78%), CD41-42(-CTTT)/N (20.1%) and CD17(AAG>TAG)/N (18.9%). There were 348 Han and 212 Dai ethnic persons in 685 cases, but their mutation of globin genes were different between these 2 ethnic groups. The results also showed that the gene mutation types were mostly concentrated in Dai ethnic individuals, since 28 of 38 detected α-β-thalassemia cases were Dai ethnic individuals.</p><p><b>CONCLUSION</b>The mutation spectrums of α- and β-globin genes in Yunnan childbearing-aged population are diverse and different from that in other areas of China.</p>

Gene Mutation Spectrum of β-Thalassemia in Dai Ethinic Population of Two Border Region in Chinese Yunnan Province / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the gene mutation spectrum of β-thalassemia in Dai ethnic population of 2 border region in Chinese Yunnan Province.</p><p><b>METHODS</b>The patients with β-thalassemia in Dai ethnic population of Dehong and Xishuangbanna autonamic prefecture were screened by using blood routine detection and capillary electrophoresis. The β-globin gene mutation in patients with β-thalassemia were detected by using PCR reverse dot-blot hybridization (PCR-RDB), the constitutive rate of gene mutation in patients with β-thalassemia of Dai ethnic population in two border regions was analyzed and compared.</p><p><b>RESULTS</b>A total of 186 patients with gene mutation of β-thalassemia were confirmed. Among them, 10 gene mutation were found, and the 5 main gene mutations were CD26 (62.56%), CD41-42 (18.97%), CD17 (14.36%), CD71-72 (2.05%) and IVS-II-654 (1.54%). Among Dai ethinic population in Dehong region, 4 gene mutations were found including CD26 (80.31%), CD17 (11.02%), CD41-42 (6.30%) and CD71-72 (2.36%). Among Dai ethinic population in Xishuangbanna region, 6 gene mutations were found, out of them the more common gene mutations were CD41-42 (42.64%), CD26 (29.41%) and CD17 (20.59%).</p><p><b>CONCLUSION</b>The gene mutations of β-thalassemia in Dai ethinic population of Yunnan province has been confirmed to be more genetic heterogenicity, the spectrums of β-thalassemia mutations in Dai ethinic population of different regions were significant different.</p>

Application of Cook MOB-15 system in guiding wire insertion during endoscopic retrograde cholangiopancreatography / 第二军医大学学报

Objective:To evaluate the value of Cook MOB-15 system in guiding wire insertion during endoscopic retrograde cholangiopancreatography (ERCP). Methods: The clinical data of 51 patients who received Cook MOB-15 system-guided wire insertion during ERCP between Jan. 2005 to Dec. 2007 were retrospectively analyzed. Forty patients who received conventional ERCP catheter for malignant jaundice between Jan. 2002 and Dec. 2004 were taken as control. The successful insertion rates were compared between the 2 groups. Results: The successful insertion rate was 90.2% (46/51) in the Cook MOB-15 system group and 72.5% (29/40) in the conventional group; there was significant difference between the 2 groups (P