Identification of key enzyme genes involved in biosynthesis of steroidal saponins and analysis of biosynthesis pathway in Polygonatum cyrtonema / 中国中药杂志

Steroidal saponins, which are the characteristic and main active constituents of Polygonatum, exhibit a broad range of pharmacological functions, such as regulating blood sugar, preventing cardiovascular and cerebrovascular diseases and anti-tumor. In this study, we performed RNA sequencing(RNA-Seq) analysis for the flowers, leaves, roots, and rhizomes of Polygonatum cyrtonema using the BGISEQ-500 platform to understand the biosynthesis pathway of steroidal saponins and study their key enzyme genes. The assembly of transcripts for four tissues generated 129 989 unigenes, of which 88 958 were mapped to several public databases for functional annotation, 22 813 unigenes were assigned to 53 subcategories and 64 877 unigenes were annotated to 136 pathways in KEGG database. Furthermore, 502 unigenes involved in the biosynthesis pathway of steroidal saponins were identified, of which 97 unigenes encoding 12 key enzymes. Cycloartenol synthase, the first key enzyme in the pathway of phytosterol biosynthesis, showed conserved catalytic domain and substrate binding domain based on sequence analysis and homology modeling. Differentially expressed genes(DEGs) were identified in rhizomes as compared to other tissues(flowers, leaves or roots).The 2 437 unigenes annotated by KEGG showed rhizome-specific expression, of which 35 unigenes involved in the biosynthesis of steroidal saponins. Our results greatly extend the public transcriptome dataset of Polygonatum and provide valuable information for the identification of candidate genes involved in the biosynthesis of steroidal saponins and other important secondary metabolites.

Genetic Screening of Thalassemia among the Couples of Childbearing Age in Ding'an County of Hainan Province and Its Analysis / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene-carrying rate and genetic types of thalassemia among the couples of child-bearing age in Ding'an, Hainan province.@*METHODS@#A total of 1742 couples at child bearing age in the region were screened for thalassemia by detecting the mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV). If the sample data of either spouse of couples was tested as MCV＜82 fl and /or MCH＜27 pg, both samples of the couple would be further assayed by hemoglobin electrophoresis. Those samples of HbA2 2.5 % or HbA2＞3.5 % were judged as positive in the preliminary screening, then subjected to genetic diagnosis of thalassemia.@*RESULTS@#478 cases out of 1 742 couples of child bearing age were diagnosed as thalassemia gene mutation, and the gene-carrying rate was 13.72 %. In those carriers, 42 couples were diagnosed with the same type of thalassemia, accounting for 3.67 %. The gene-carrying rate of α-thalassemia, β-thalassemia and αβ-thalassemia was 9.56%, 3.10% and 1.06 % respectively.@*CONCLUSION@#The Ding'an area in Hainan Province is an area with high incidence of thalassemia, and the main genotype is α-thalassemia, showing a distribution of local characteristics. The government should make efferts to popularise the screening for thalassemia, so as to effectively prevent the birth of children with thalassemia major.

Analysis of Genetic Screening in Couples of Reproductive Age for Thalassemia in Lingshui Li Autonomous County of Hainan Province / 中国实验血液学杂志

OBJECTIVE@#To investigate the genetic carrier rate of thalassemia and its gene mutation types as well as the distribution characteristics among the people in Lingshui Li autonomous county of Hainan province, so as to provide the basis for making the prevention programs of thalassemia in administrative departments.@*METHODS@#Samples were collected from couples undergoing premarital and pregestational screenings, in which the positive ones in preliminary screening were further tested by genetic diagnoses and the genotypes were analyzed.@*RESULTS@#The rate of thalassemia gene carriers was 19.41% （274/1412） of the couples of childbearing age in Lingshui Li autonomous County of Hainan Province. In these carriers,α-thalassemia accounted for 83.21%（228/274）, β-thalassemia for 8.03%（22/274）, and both α-and β-thalassemia gene accounted for 8.76% （28/274）.@*CONCLUSION@#The carrying rate of thalassemia gene in population Lingshui Li autonomous county of Hainan province is high, and its distribution has geographical characteristics,the major type is α-thalassemia. Blood screening and genetic diagnosis of thalassemia should be strengthened, and corresponding measures should be taken to reduce its gene frequency.

Second-line Hycamtin in the treatment of lung cancer / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To discuss the therapeutic effect and toxicity of second line Hycamtin for lung cancer patients.</p><p><b>METHODS</b>Ten of these 21 patients had been treated with operation. All these 21 patients received second line Hycamtin treatment; given at the dose of 1.2 mg/m(2) per day, four consecutive days as one cycle and 21 days as one course. A total of 1 - 4 courses were given according to the patient's tolerance. Four of these 21 patients also received combination of cisplatin.</p><p><b>RESULTS</b>Among the 13 un-operated patients, two patients showed CR, six showed PR, three SD and two PD, giving an effective rate of 62%. Among the 8 operated patients, seven showed SD but one developed distant metastasis. The 1-year survival rate was 88%.</p><p><b>TOXICITY</b>leukopenia I-II degree 14 (66.7%), leukopenia III-IV degree 5 (23.8%), thrombocytopenia III-IV degree 1 (4.8%) and one patient died of high fever and neutocytopenia. Nausea 8 (38.1%), vomiting 3 (14.3%) and diarrhea 2 (9.5%) alopecia 4 (19.1%). Were the other side-effects.</p><p><b>CONCLUSION</b>Hycamtin is indicated for second line therapy for lung cancer giving tolerable toxicity.</p>