Aim: Perform gene diagnosis on 400 specimen,to explore the gene mutation patterns and frequencies of thalassemia in Guangdong area and control the birth of severe thalassemic children.Methods: The commonest known 3 kinds of gene deletion types of α-thalassemia(——SEA/-a3.7/-a4.2)were checked by gap-PCR.Simultaneously,the commonest known 17 types mutation on β-globin gene of the 400 specimen were identified by reverse dot blot hybridization(RDB).Results: 118 cases of the 400 specimen were detected as α-thalassemia and 78 cases were detected as β-thalassemia(heterozygous).6 cases were α-and β-complex thalassemia.1 case was detected as Bart's hydrops syndrome.Conclusion:Genetic diagnosis is an effective technology for thalassemia prenatal diagnosis,and it is necessary to avoid contaminations from maternal blood in the detection of villi,amniotic fluid and umbilical cord blood.

<正>患儿男,11岁,因反复发热伴鼻塞、流涕1个月入院。患儿于1个月前无明显诱因出现发热,体温高达39.2℃,伴有鼻塞、流涕,无咳嗽、咳痰,无寒战、抽搐,无腹痛及腹泻。病后食欲欠佳,身体较前消瘦。在当地医院做胸片检查提示心肺及隔未见明显异常;做鼻部CT检查,意见为:右侧额窦炎,双侧鼻息肉。曾用抗生素、中药及对症治疗,病情无好

MicroRNA (miRNA) is a kind of new-found non-coding small RNA molecule in recent years, which is universally present in animals, plants and viruses. It will control vital movement including individual development, cell apoptosis, proliferation and differentiation by regulating target genes' expression or translation, through pairing with target mRNA at fully or partially complementary base sites. Its deregulation may lead to diseases. The article aims to review the role of miRNA in infectious diseases-related tumors.

MicroRNAs(miRNAs) are non-encoded small RNAs which discovered in recent years, about 22 nucleotides in length.They mediate the post-transcriptional genes modulation generally and regulate various physiological processes in the body.MiRNAs are closely related to the occurrence and development of human diseases such as tumour.Studies found that there are miRNAs in the blood circulation, and circulated miRNAs can act as a new non-invasive tumour diagnosis target.This article summarize the source, the function, the relation to diseases, the detection methods and the application in cancer diagnosis and treatment of miRNAs.