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.

Study on the expression of survivin mRNA and protein in nasopharyngeal carcinoma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between survivin mRNA and protein expression and nasopharyngeal carcinoma (NPC).</p><p><b>METHODS</b>Survivin mRNA and protein were detected by in situ hybridization and immunohistochemical S-P staining respectively.</p><p><b>RESULTS</b>Among 64 cases of NPC, 42 cases (65.6%) were positive for survivin mRNA expression, 30 cases (46.9%) had high expression level. In 46 cases (71.9%) of NPC were positive for survivin protein expression, and 38 cases (59.4%) had high expression level. In 22 cases of NPC with detailed clinical information, the positive expression rates of survivin mRNA and protein in stages III+ IV of NPC were 66.7% and 61.1% respectively, which were higher than those in stages I+ II of NPC (50.0% and 50.0% respectively). There was no significant difference between survivin mRNA and protein expression regarding age or gender of NPC patients (all P> 0.05). The positive expression rates of survivin mRNA and protein in chronic nasopharyngitis group were 33.3% and 23.3% respectively, which were lower than those in NPC group (chi (2)= 12.04, P< 0.01 and chi (2)= 19.57, P< 0.01, respectively). In 64 cases of NPC, 36 cases were positive for both survivin mRNA and protein, and the expression of survivin mRNA and protein showed positive correlation (phi = 0.43).</p><p><b>CONCLUSION</b>The expression of survivin gene may play some roles in the pathogenesis of NPC. Detection of survivin mRNA and protein will be helpful for diagnosis, clinical staging and prognosis of NPC.</p>