Thirty-one patients with middle ear effusion were evaluated for the presence of chlamydia pneumonia by using polymerase chain reaction (PCR) assay. The presence of chlamydia neumonia was 19. 3% (6/31). The results indicated that PCR assay is a highly sensitive and specific for the detection of chlamydia pneumonia in the middle ear effusion and chlamydia pneumonia may be an aetiological agent of middle ear effusion.

Next-generation sequencing has boosted the development and application of non-invasive prenatal testing.Non-invasive prenatal screening of fetal aneuploidies (T21/T18/T13) has been widely applied around the world as the well-recognized best screening method because of its high sensitivity, low false-positive rate and false-negative rate.Non-invasive prenatal testing of fetal sex chromosome aneuploidies, common chromosome deletion-duplication syndromes and several monogenic disorders has also become technically feasible.It can be expected that primary challenges in the future would be the issues of clinical services and proper managements.

Objective To make a molecular genetic analysis in a Chinese family with piebaldism,in order to find the causative mutation of this disease.Methods DNA and RNA were extracted from blood samples of the proband and other 13 members in this family.Ploymerase chain reaction (PCR),reverse transcription PCR and DNA sequencing were performed to detect the mutation of kit gene.Results A novel heterozygous mutation c.2472+1G>A in kit gene.which leads to the loss of 3' splicing site in exon 17 followed by the absence of exon 17,was found in all affected members,but not in an unaffected member in the family.Conclusion The novel mutation c.2472+1G>A may be associated with piebaldism initiation in this family.

Cardiac Tamponade ; etiology ; Heart Neoplasms ; complications ; Hemangiosarcoma ; complications ; Humans ; Pericardial Effusion

Objective To provide valid data and useful genetic counseling in the clinical application of non‐invasive prenatal test (NIPT) ,fetal chromosomal disorder were screened by massive parallel sequencing and made a follow‐up study .Methods Preg‐nant women with Down screening in high‐risk were screened by NIPT ;NIPT verified high‐risk individuals were suggested for kary‐otyping ;and we follow up on whoever showed low risk by NIPT before and after their deliveries .Results (1)Totally 1 676 cases of pregnant women were tested by NIPT ,25 cases prompted to be abnormal ,with an abnormal rate of 1 .49% ,karyotype analysis re‐sults in 12 cases of abnormalit ,the accuracies of NIPT for T21 ,T18 ,XO ,XXY ,and XYY were 99 .93% ,100 .00% ,99 .66% , 100 .00% ,100 .00% respectively ;the accuracy of NIPT for women with advanced paternal age and twins were both 100 .00% ;kary‐otyping positive individuals underwent abortion ,which gives a prenatal intervention rate of 100 .00% .(2)Out of 1 651 cases of NIPT low risk testers ,1 468 cases were successfully followed up ,with a 88 .91% success rate .We found chromosome abnormality with one case of inversion of chromosome 9 (maternal) .(3)Ultrasound‐detection possessed 98 .17% accuracy and 7 .69% in detec‐tion rate;in high‐risk pregnant woman ,Down screening had an accuracy of 0 .88% and false positive rate of 99 .12% ;98 .71%women were avoided prenatal diagnosis via NIPT .Conclusion Compare to ultrasound and maternal plasma screening ,NIPT is a far more accurate prenatal screening approach .To build effective follow‐up and service systems of NIPT is necessary to reduce birth de‐fects in medical institutions .

G mutation of SLC26A4, the parents and the second child were carriers of the same mutation, while the fetus had a wild-type form. Conclusion It is feasible to identify deafness related genes by screening for GJB2 and SLC26A4 mutation, thus providing correct prenatal diagnosis and avoiding deaf delivery of baby.

Developed rapidly for more than ten years, next-generation sequencing (NGS) has derived a series of new technologies which are widely used clinically, such as noninvasive prenatal testing(NIPT), noninvasive prenatal testing-plus(NIPT Plus), copy number variation sequencing(CNV-seq), and exome sequencing(ES), and plays an important role in birth defects prevention. Moreover, with in-deep development, the superiority of NGS is gradually recognized by clinicians, but there are still many challenges in practical application process. This study specifically elaborates on the development status, technological breakthroughs and future prospects of NGS in the field of prenatal screening and prenatal diagnosis at home and abroad.

Developed rapidly for more than ten years, next-generation sequencing (NGS) has derived a series of new technologies which are widely used clinically, such as noninvasive prenatal testing(NIPT), noninvasive prenatal testing-plus(NIPT Plus), copy number variation sequencing(CNV-seq), and exome sequencing(ES), and plays an important role in birth defects prevention. Moreover, with in-deep development, the superiority of NGS is gradually recognized by clinicians, but there are still many challenges in practical application process. This study specifically elaborates on the development status, technological breakthroughs and future prospects of NGS in the field of prenatal screening and prenatal diagnosis at home and abroad.

In order to study the tumor suppression effect of p53 with CMV enhancer and hTERT promoter mediated by human-derived vector pHrn in liver cancer cell Bel-7402, report plasmid pchEGFP, tumor suppressor plasmids pchp53Arg and pchp53Pro were constructed by inserting expression cassette CMVe+hTERTp+EGFP, CMVe+hTERTp+p53Arg and CMVe+hTERTp+p53Pro into pHrn respectively. 24 h after cell transfection by lipofectamine 2000, GFP expression pattern was analyzed through fluorescence microscope and flow cytometry; RT-PCR and Western blot were taken to study the p53 expression pattern. The cell apoptosis by Hoechst 33258 and Annexin V-FITC/PI staining was also studied. Results show that the expression of GFP and p53 protein in Bel-7402were detected, but apparent cell apoptosis could not be found. The recombinant p53 mediated by human-derived vector could express in Bel-7402, but no significant tumor suppression effect was detected, which might result from the down regulation effect of the wild type p53 on hTERT promoter.

Human ribosomal DNA (hrDNA) targeting vector pHr is a homologous recombinant plasmid for human genome which developed in the State Key Laboratory of Medical Genetics. pHr was used to construct a recombinant plasmid pHr-CMG expressing mda-7/GFP fusion gene and its efficacy in the hepatocellular carcinoma cell line Bel-7402 was investigated. The expression of mda-7/GFP fusion gene was detected by fluorescent microscope, RT-PCR and Western blotting, and its function was detected by cell-cycle analyses, MTT assay and Hoechst33258 staining. The results demonstrated that pHr-CMG vector could express MDA-7/GFP fusion protein effectually and the mda-7 gene could induce cell apoptosis and proliferation suppression in Bel-7402 cell line, which might be caused by the G2/M cell cycle arrest. These results also suggested that human ribosomal DNA targeting vector system and the pHr-CMG vector may be applied in further gene therapy researches for hepatocellular carcinoma.