Analysis of rare genotypes of thalassemia in Laibin area of Guangxi / 公共卫生与预防医学

Objective To investigate the rare genotypes and mutation frequency of thalassemia in Laibin area of Guangxi , to intervene the birth of children with moderate or severe thalassemia, and to better guide the genetic diagnosis and prenatal diagnosis. Methods A total of 282 patients of hematological phenotypes inconsistent with genotypes in Laibin City (four counties, one city and one district) were tested for rare genotypes. Results A total of 50 cases were found to carry rare thalassemia gene mutations, including 23 cases of β-globin gene mutation containing 9 types of mutations, and 27 cases of α-globin gene mutation containing 7 types of mutations. There were 4 homotypic thalassemia couples with one party carrying rare thalassemia gene mutation. After prenatal diagnosis, one case was found to be a rare mutation carrier , two cases to be a double heterozygote, and one case to be a common mutation carrier. Conclusion The data of thalassemia genotype spectrum in Laibin , Guangxi. It is suggested that when the hematological phenotype is not consistent with the genotype , it should be detected by other molecular techniques to avoid the birth of children with moderate or severe thalassemia, which is also helpful for clinical diagnosis and treatment guidance, population screening and genetic counseling.

Expression and Clinical Significance of Serum MiR-370 and MiR-203 in Patients with Acute Myeloid Leukemia / 中国实验血液学杂志

OBJECTIVE@#To investigate the expression of microRNA-370 (miR-370) and microRNA-203 (miR-203) in the serum of patients with acute myeloid leukemia(AML), and to analyze its clinical diagnosis and prognostic significance.@*METHODS@#57 patients with acute myeloid leukemia were enrolled as experimental group, and 21 healthy people were enrolled as control group. The fasting venous blood of the personal in the two groups were collected. The expression of miR-370 and miR-203 of the personal in each groups were detected by real-time fluorescent quantitative PCR. The receiver operating characteristic (ROC) curve was plotted to detected the diagnostic values of serum miR-370, miR-203, and the Kaplan-Meier method was used to estimate the relationship between expression and overall survival of the patients.@*RESULTS@#Compared with healthy controls, serum miR-370 expression was significantly decreased in AML patients(P<0.05), and serum miR-203 expression was also significantly decreased (P<0.05). ROC curve analysis showed that the expression of serum miR-370 and miR-203 could be used to distinguish acute myeloid leukemia and healthy people. The area under the ROC curve of miR-370 was 0.909, and the sensitivity and specificity were 91.46% and 100.00%, respectively. The area under the ROC curve of miR-203 was 0.895, and the sensitivity and specificity were 83.45% and 89.71%, respectively. Serum levels of miR-370 and miR-203 were closely related to overall survival in AML patients.@*CONCLUSION@#The expression of miR-370 and miR-203 is decreased in the serum of patients with AML and may be a new markers for the diagnosis and prognosis of AML.

Analysis of Gene Mutation Types in 920 Cases of Thalassemia / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene mutation types and distribution features of α- and β-thalassemia in reproductive population of Xing bin district of Guangxi Lai bin city so as to provide the scientific basis for formulating the preventive and control measures.@*METHODS@#The high risk population with thalassemia in 6 498 people of child-bearing age admited in department of antenatal care of our hospital from January 2017 to December 2017 were screened by blood cell test and hemoglobin electrophoresis. The gene mutation types and mutation frequency in αandβthalassemia positive cases were diagnosed and analyzied by Gap-PCR and PCR-RDB.@*RESULTS@#The inital screening showed that there were 1 432 cases of thalassemia positive accounting for 22.04%; the gene diagnoses showed that there were 920 cases of thalassemia gene positive accounting for 14.16%. Among 920 cases, 593 cases were α-thalassemia accounting for 64.45% (593/920); the gene mutation types were 19 kinds. The α-deletion type gene was mainly -- (47.22%), the α-mutatin type gene was mainly -αα(13.66%); 260 cases were the β-thalassemia accounting for 28.26%, (260/920), the gene mutation types were 9 kinds, out of which the β41-42 βN was main (50.38%), followed by β17/βN (38.08%)，there were 2 kinds of gene mutation types accounted for 88.46%; the αβ-thalassemia numbered 67 cases (7.28%), the mutation types were mainly --/β41-42 (17.91%) and -α3.7/β41-42 (17.91%).@*CONCLUSION@#The α-and β-thalassemia mostly observed in the childbearing population of Laibin city Xinbin district possess the gene comblexity and diversity as well as the significant genetic heterogeneily.The results of this study provide the reference basis for the prevention of thalassemia and eugenic works.

MED12 mutations in human diseases

The Mediator Complex plays key roles in activating gene transcription in eukaryotes. Mediator of RNA polymerase II transcription subunit 12 homolog (MED12) is a subunit of the Mediator Complex and regulates the activity of the complex. MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer. This review will discuss the biological function of MED12 and the relationship between MED12 mutations and diseases.