Optical genome mapping analysis of a Chinese pedigree with a rare chromosome 17 paracentric inversion insertion / 中华医学遗传学杂志

OBJECTIVE@#To carry out optical genome mapping (OGM) for a Chinese pedigree with a rare paracentric reverse insertion of chromosome 17.@*METHODS@#A high-risk pregnant woman identified at the Prenatal Diagnosis Center of Hangzhou Women's Hospital in October 2021 and her family members were selected as the study subjects. Chromosome G banding analysis, fluorescence in situ hybridization (FISH), single nucleotide polymorphism array (SNP array) and OGM were applied to verify the balanced structural abnormality of chromosome 17 in the pedigree.@*RESULTS@#Chromosomal karyotyping analysis and SNP array assay have identified a duplication of 17q23q25 in the fetus. Karyotyping analysis of the pregnant woman showed that the structure of chromosome 17 was abnormal, whilst SNP array has detected no abnormality. OGM revealed that the woman has carried a paracentric reverse insertion, which was confirmed by FISH. The karyotype of her husband was normal.@*CONCLUSION@#The duplication of 17q23q25 in the fetus has derived from a paracentric reverse insertion of chromosome 17 in its mother. OGM has the advantage for delineating balanced chromosome structural abnormalities.

Magnetic resonance imaging-guided microwave ablation of hepatic malignancies: Feasibility, efficacy, safety, and follow-up

Context: Percutaneous image-guided thermal ablation has emerged as a valuable therapeutic approach for hepatic malignancies. Magnetic resonance imaging (MRI) has shown potential for great soft-tissue resolution and multiplanar capabilities in arbitrary imaging planes, which are also critical for treatment planning, targeting, and evaluation. Aims: The aim of this study was to investigate the feasibility, technical success, safety, and follow-up of hepatic malignancies treated with MRI-guided microwave ablation (MWA). Materials and Methods: MRI-guided MWA was performed in a closed-bore 1.5 T MR system. T1-weighted imaging was used as a monitoring tool during surgery. T2-weighted imaging was performed to obtain an adequate tumor margin, to calculate the tumor size. Multi-b-value diffusion-weighted imaging (DWI) was performed postprocedurally. Enhanced MRI was performed at 4 weeks, to assess the technical success, and every 3–6 months as a follow-up. Results: Twenty-six patients (38 lesions) were enrolled in the study. A primary efficacy rate of 100% was achieved, and no major complications were observed. Two patient cohorts were identified based on lesion size. Six lesions with incomplete circles on reconstructed DWI appeared immediately postprocedure, and persistent hyperintense signals developed into new lesions over the subsequent 6–12 months. Conclusion: MRI-guided ablation is feasible and effective for planning and evaluating MWA in hepatic malignancies. The available clinical data strongly support the advantages of the assessment of tumors through 3D imaging versus routine axial images

Preparation and Quality Evaluation of Imperatorin Ultradeformable Liposomes Gel / 中国药房

OBJECTIVE：To prepare Imperatorin ultradeformable liposomes gel （IMP-UDLs-Gel），and to evaluate its quality. METHODS：Based on single factor test ，using 12 h accumulative penetration amount （Q12h）as evaluation index ，the proportion of carbomer 940，glycerol and propyl glycol in formulation of IMP-UDLs-Gel were investigated by orthogonal test. The optimal formulation was screened. The quality of IMP-UDLs-Gel prepared with the optimal formulation was evaluated. RESULTS ：The optimal formulation of IMP-UDLs-Gel included carbomer 940 proportion of 1％，glycerol proportion of 15％ and propyl glycol proportion of 10％. Q12 h of IMP-UDLs-Gel was （11.543±0.241）μg/cm2；the appearance was milky white and translucent ；the particle size was （93.13±1.68）nm，PDI was 0.268±0.012，Zeta potential was （－24.96±1.99）mV；pH was 7.32±0.03； viscosity was （45.37±1.27）g·s；steady flow was （0.727±0.002）μg·h/cm2，lag time was （4.358±0.175）h，apparent permeability coefficient was 1.392×10－3 cm/h，and it has good physical and optical stability. CONCLUSIONS ：The preparation method is stable and feasible ，and the prepared IMP-UDLs-Gel has good adhesion ，stability and transdermal property.

Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly / 中华医学遗传学杂志

OBJECTIVE@#To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.@*METHODS@#Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified in other family members and 100 healthy controls. Polyphen-2 and SIFT software were used to predict the effect of the mutation, and Swiss-model software was used to simulate the protein structure.@*RESULTS@#Three patients were found to carry a c.893G>A mutation in exon 8 of the LBR gene, which resulted in substitution of the 298th amino acid residue glycine by glutamic acid (p.Gly298Glu). The same mutation was not found in healthy family members and 100 healthy controls. The mutation was predicted to be damaging. Bioinformatic simulation showed the mutation has altered the 3D structure of the LBR protein.@*CONCLUSION@#The c.893G>A (p.Gly298Glu) mutation in the LBR gene probably underlies the PHA in this pedigree and has enriched the spectrum of LBR gene mutations.

Clinical features and genetic analysis of a pedigree affected with non-muscle myosin heavy chain 9 gene related disease / 中华医学遗传学杂志

OBJECTIVE@#To identify the mutation type of non-muscle myosin heavy chain 9 (MYH9) gene and investigate the clinical features of a pedigree affected with MYH9 gene-related disease.@*METHODS@#Peripheral blood samples of the proband and his family members were collected. Routine blood tests were performed, which included platelet counting and Wright's staining to observe the granulocyte inclusions and giant platelets. PCR was used to amplify exons 2, 17, 27, 31, 39 and 41 of the MYH9 gene, and the mutation site was determined by Sanger sequencing.@*RESULTS@#All patients from the pedigree presented a typical triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. In addition, two patients had nephritis and cataract. All affected members carried a heterozygous missense mutation of c.5521G>A (p.glu1841Lys) in exon 39 of the MYH9 gene. The same mutation was not found among healthy members of the pedigree and the controls.@*CONCLUSION@#The c.5521G>A (p.Glu1841Lys) mutation in the MYH9 gene probably underlies the MYH9-related disease in this pedigree.

Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly / 中华医学遗传学杂志

Objective@#To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.@*Methods@#Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified in other family members and 100 healthy controls. Polyphen-2 and SIFT software were used to predict the effect of the mutation, and Swiss-model software was used to simulate the protein structure.@*Results@#Three patients were found to carry a c. 893G>A mutation in exon 8 of the LBR gene, which resulted in substitution of the 298th amino acid residue glycine by glutamic acid (p.Gly298Glu). The same mutation was not found in healthy family members and 100 healthy controls. The mutation was predicted to be damaging. Bioinformatic simulation showed the mutation has altered the 3D structure of the LBR protein.@*Conclusion@#The c. 893G>A (p.Gly298Glu) mutation in the LBR gene probably underlies the PHA in this pedigree and has enriched the spectrum of LBR gene mutations.

Application of the pyrosequencing technique for detection of VKORC1 and CYP2C9 genotypes / 国际检验医学杂志

Objective To establish genotyping methods for vitamin K epoxide reductase complex subunit 1 (VKORC1)and cytochrome P450 2C9(CYP2C9)based on pyrosequencing technique to detection of warfarin metabolizing enzyme related gene polymorphisms.Methods A total of 50 peripheral blood samples from healthy adults were collected and the whole blood genomic DNA was extracted.A set of biotin-labeled amplifi-cation primers and sequencing primers were designed respectively for three SNP sites:VKORC1 -1639 G>A,CYP2C9 430C> T and CYP2C9 1075A>C.After PCR amplification of the samples,pyrophosphoric acid se-quencing was conducted.And then the signal peaks form were combined to analyze and determine each sample genotype.Genotyping results were verified by Sanger sequencing,and the consistency of the two sequencing methods was compared.Results Genotypes of the three SNPs can be clearly determined according to the ba-ses and height of the signal peaks.Among the 50 samples,there were 41 AA and nine AG for VKORC1 -1639G>A,accounting for 82% and 12% respectively,and there were 45 *1/*1,five *1/*3 for CYP2C9, accounting for 90% and 10% respectively,no CYP2C9*2 allele detected.Genotype results detected by pyrose-quencing and Sanger sequencing were consistent with each other.Conclusion In SNP genotyping,Pyrose-quencing has the advantages of convenience,time-saving,cheap with accurate and reliable results,which can quickly determine the genotypes of CYP2C9 and VKORC1.

Results of thalassemia screening and genetic diagnosis for 13 738 pregnant women / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region.</p><p><b>METHODS</b>Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations.</p><p><b>RESULTS</b>Among 13 738 pregnant women, 1745 (12.70%) were suspected as thalassemia. In terms of native place, the provinces with highest screening-positive rates were Guangxi, Guangdong, Jiangxi and Guizhou. And the ethnic groups with highest screening-positive rates were Zhuang, Li, and Buyi. Among 801 women subjected to genetic testing, 457 (57.05%) were diagnosed with thalassemia. In total 9 genotypes of alpha- thalassemia were detected, with the most common genotypes being --/alpha alpha (63.35%), - alpha/alpha alpha (19.37%) and - alpha/alpha alpha (8.90%). Eleven genotypes of beta- thalassemia were detected, with the most common genotypes being CD17/N (42.91%), CD41-42/N (32.46%) and IVS-II-654/N (11.94%). Two cases were detected with rare beta-thalassemia mutations (CD54-58/N and IVS-I-130/N).</p><p><b>CONCLUSION</b>The screening-positive rate of thalassemia among pregnant women in Guiyang region is relatively high. The rates have shown substantial difference in terms of native place and ethnic group. Thalassemia-related mutations in Guizhou region have a diverse spectrum, which showed certain difference from those of other regions.</p>

Progress in epigenetic research on Alzheimer disease / 中华医学遗传学杂志

Alzheimer's disease (AD) is the most common neurodegenerative disorder, which features mainly with memory impairment as the initial symptom of progressive loss of cognitive function. Its main pathological changes include senile plaques and neurofibrillary tangles. The pathogenesis of AD is still unclear, though it may be connected with aging, genetic factors and environmental factors. Among these, aging and environmental factors can be modified by epigenetics. In this paper, advances in the study of epigenetic mechanisms related to the pathogenesis of AD are reviewed.

Content Determination of Domiphen by Potassium Chromate Indicator Method / 中国药房

OBJECTIVE: To establish a method for the content determination of domiphen by potassium chromate indicator method.METHODS: The contents of domiphen were determined based on the theory that bromide ion in domiphon could react with AgNO3 to produce silver bromide precipitation.The method was compared with the sodium tetraphenylborate method issued in China Pharmacopeica(2005 edition).RESULTS: The RSD of contents was 0.18%,and the average recovery was 100.2% in the potassium chromate indicator method.There was no significant difference between the results of two determination methods by t-test.CONCLUSION: The potassium chromate indicator method is simple,fast and accurate,which can be used for the content determination of domiphen.