Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis / 中华妇产科杂志

Objective:To detect the incidence and analyze the clinical significance of regions of homozygosity (ROH) through the single nucleotide polymorphism array (SNP array).Methods:The SNP array detection results of 5 116 pregnant women in the Third Affiliated Hospital of Guangzhou Medical University from January 2016 to December 2020 were retrospectively analyzed. The pregnant women with ROH (5 Mb as the threshold) were followed up to analyze the relationship between ROH and abnormal fetal phenotype. Whole exon sequencing was performed in 4 cases of consanguineous marriage to detect potential recessive causative genes in the ROH region.Results:(1) A total of 39 cases of ROH were detected, with a positive rate of 0.76% (39/5 116). Among them, 25 cases (64%, 25/39) were detected only on single chromosome, and chromosome 11 had the highest detection rate, suggesting the risk of uniparental disomy; fourteen cases (36%,14/39) were detected on multiple chromosomes, most commonly on chromosomes 11, 1, 3, 4 and 8. (2) The number of cases and detection rate of ROH detected by different prenatal diagnosis indicators were as follows: 12 cases (1.78%, 12/676) in pregnant women with abnormal non-invasive prenatal testing result, 12 cases (0.37%, 12/3 284) in pregnant women with ultrasound abnormality, 4 cases (4/4) in pregnant women with consanguineous marriage, 3 cases (0.92%, 3/326) in pregnant women with previous adverse pregnancy, 2 cases (1.15%, 2/174) in pregnant women with high risk of serology in screening, 2 cases (4.00%, 2/50) in pregnant women with abnormal fetal chromosomal karyotype, 2 cases (0.79%, 2/253) in pregnant women with advanced maternal age, 1 case (0.56%, 1/178) in pregnant women with related parental genetic factors and 1 case (0.58%, 1/171) in pregnant women with the other factors. (3) The follow-up results of 39 cases of prenatal ROH showed that there were 16 cases of term birth, 15 cases of termination of pregnancy, 2 cases of preterm births, 1 case of fetal death and 5 cases lost to follow-up.Conclusions:Chromosomal ROH phenomenon is not rare. By analyzing the detection rate of ROH in prenatal diagnosis, combined with the results of fetal phenotype and postpartum follow-up, the clinical characteristics of ROH are discussed, so as to better understand the relationship between ROH and its phenotype.

Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy / 中华医学遗传学杂志

The overall prevalence of uniparental disomy (UPD) across all chromosomes was estimated to be around one birth in 2000. To date, more than 4170 UPD cases have been registered. UPD for chromosomes 6, 7, 11, 14, 15, and 20 can result in clinically recognizable imprinting disorders due to abnormal levels of imprinted gene expression. For other chromosomes, the clinical consequences associated with UPD are not apparent, unless when a recessive genetic disorder is unmasked by UPD or regions of homozygosity (ROH). A clinical practice guideline will assist in strengthening the precise analysis and interpretation of the clinical significance of ROH/UPD. This guideline summarizes the conception, mechanism and clinical consequences of ROH/UPD, as well as the principles for data analysis, with an aim to standardize the clinical application and data interpretation.

Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy / 中华医学遗传学杂志

The overall prevalence of uniparental disomy (UPD) across all chromosomes was estimated to be around one birth in 2000. To date, more than 4170 UPD cases have been registered. UPD for chromosomes 6, 7, 11, 14, 15, and 20 can result in clinically recognizable imprinting disorders due to abnormal levels of imprinted gene expression. For other chromosomes, the clinical consequences associated with UPD are not apparent, unless when a recessive genetic disorder is unmasked by UPD or regions of homozygosity (ROH). A clinical practice guideline will assist in strengthening the precise analysis and interpretation of the clinical significance of ROH/UPD. This guideline summarizes the conception, mechanism and clinical consequences of ROH/UPD, as well as the principles for data analysis, with an aim to standardize the clinical application and data interpretation.

Platycodin D protects oral epithelial cells against infection of Candida albi-cans / 中国病理生理杂志

AIM: To investigate the effect of platycodin D on Candida albicans infection in oral epithelial cells.METHODS:The viability of the oral squamous carcinoma KB cells was detected by MTT assay after treated with different concentrations of platycodin D .The KB cells were infected with Candida albicans, and then were incubated with platycodin D at different concentrations .Adherent numbers of the Candida albicans were counted by Gram staining , and the bacterial activity and conversion were measured by Trypan blue staining .Furthermore , the protein levels of IL-18 and hu-man β-defensin 2 ( HBD-2) were analyzed by ELISA , and the expression of HBD-2 at mRNA and protein levels was deter-mined by RT-qPCR and Western blot , respectively .RESULTS:The viability of the KB cells was not affected by platycod-in D at the concentrations used .The adherent numbers , bacterial activity and conversion were decreased by treatment with platycodin D in a dose-dependent manner .In addition, the protein level of IL-18 in the culture supernatant and the mRNA expression of HBD-2 in the KB cells were also reduced after platycodin D treatment .CONCLUSION:Platycodin D has a bacteriostasis effect and prevents oral epithelial cells from Candida albicans infection.

Expressions of IFNγ,IP-10 and CXCR3 in infection-associated hemophagocytic syndrome and their clinical significance / 中华临床感染病杂志

Objective To investigate the expressions of interferon γ(IFNγ), interferon inducible protein-10(IP-10). chemokine receptor CXCR3 and their significance in infection-associated hemophagocytic syndrome(IAHPS). Methods Forty-three patients with IAHPS, 35 infection patients without HPS and 25 healthy controls were included in the study. The serum IFNγ and IP-10 levels were measured by enzyme linked immunosorbent assay(ELISA). The expression of CXCR3 on cell surface of CD_4~+ and CD_8~+ T cells in peripheral blood was determined by flow cytometry. SPSS 13.0 was used for data processing, and independent-sample t test was performed to compare the differences among the groups. Results The serum IFNγ and IP-10 levels in patients with IAHPS were( 608±135) pmol/L and(939±141) pmol/L respectively, which were significantly higher than those in without HPS group[(154±45) pmol/L and (385±119) pmol/L, t=4.97 and 4.02, P<0.05] and healthy controls[(56±18) pmol/L and (248±98) pmol/L, t=5.27 and 4.77, P<0.05]. The expressions of CXCR3 on CD_4~+ and CD_8~+ T cells in IAHPS group were (35±11)% and (23±8)% respectively, which were significantly higher than those in without HPS group[(24±7)% and (16±7)%, t=3.12 and 3.62, P<0.05] and healthy controls[(20±6)% and (12±5)%, t=4.46 and 4.93, P<0.05]. Conclusion The expressions of IFNγ, IP-10 and CXCR3 are increased significantly in patients with IAHPS, which may be related to the disease pathogenesis.

Clinical Study on the Effects of Bufei Yishen Treatment on Quality of Life of Patients with Chronic Obstructive Pulmonary Disease in Stable Period / 中国中医药信息杂志

Objective To observe the clinical effects of Bufei Yishen treatment on quality of life of patients with chronic obstructive pulmonary disease in stable period. Methods Sixty-four patients were randomly divided into two groups, the control group (32 cases) received Atrovent metered dose inhaling and Mucosolvan po. The treatment group (32 cases) received the fluid extract of Bufei Yishen besides the routine treatment. Both groups were treated for three months. The changes of scores of TCM syndrome and cardinal symptom, quality of life (QOL), lung function were observed before and after the treatment. Results The scores of TCM syndrome and cardinal symptom, quality of life of the treatment group were significantly higher than the control group (P0.05). Conclusion Bufei Yishen treatment has significantly effect on quality of life of patients with chronic obstructive pulmonary disease in stable period.

Antiproliferation and apoptosis of K562 cells by Astragalus Mongholicus Lectin / 中国药理学通报

Aim To investigate the effects of Astragalus Mongholicus Bunge Lectin (AMML) on tumor cells proliferation,cell cycle and apoptosis by using human leukemia cell line (K562 cells).Methods The antiproliferation effect of AMML on K562 cells was detected by the colorimetric MTT assay.The apoptosis induced by AMML on K562 cells was explored by means of cell morphological and flow cytometry.Results AMML showed strong inhibiton of the growth of K562 cells in a time-and concentration-dependence. After incubation of K562 cells with AMML at a concentration of 60 mg?L-1 for 72 h,the inhibition ratio was 89%.Morphological observation showed that AMML-treated K562 cells displayed outstanding apoptosis characteristics,such as nuclear fragmentation,chromatin condensation. AMML induced significant cell cycle arrest at S phase in K562 cells,and the apoptosis of K562 cells was confirmed by flow cytometry.Conclusion AMML can inhibit the growth of K562 cells through S arrest and induce the apoptosis of K562 cells. Thus,AMML may be valuable for the treatment of cancer.

Isolation and purification of a lectin from roots of Astragalus membranaceus / 中草药

Objective To isolate and purify a lectin from the roots of Astragalus membranaceus.Methods The protein was purified using a combination of 20%—60% ammonium sulfate fraction and ConA-Sepharose 4B affinity chromatography.Results The purified protein appeared as a single band with molecular mass of 3.15?104 on SDS-PAGE and the relative molecular mass was estimated by gel filtration on a calibrated Superdex 75 column with apparent molecular weight of 3.35?104.This lectin was a glycoprotein with a neutral carbohydrate content of 10.7%.Conclusion A lectin is isolated and purified from the roots of A.membranaceus for the first time.It is a monomer glycoprotein and its specific activity is 391.9 U/mg.