Objective To investigate the correlation between the HSP90 expression and invasion and metastasis potential of human breast cancer cell line. Methods The mRNA expression level of HSP90 was detected by RT-PCR. The protein expression level of HSP90 was measured by Western blotting. The effects of HSP90 inhibitor Geldanamycin (GA) on the invasion and motility abilities of human breast cancer line MDA-MB-231 and MDA-MB-435s in vitro were explored by transwell chamber. Results The mRNA expression level of HSP90? in MDA-MB-435s cell was higher than that of MDA-MB-231 cell (P0.05) between the two cell lines. The protein expression level of HSP90 in MDA-MB-435s cell was higher than that of MDA-MB-231 cell (P0.05). After treated with GA, the invasive and metastatic potential in human breast cancer cell MDA-MB-435s and MDA-MB-231 was suppressed significantly (P

Objective To explore the telomere length (TL) in buccal cells and its possible implications for long-lived families of Zhuang nationality in Bama area of Guangxi.Methods Relative TL in buccal cells from Bama long-lived families (BLF,n=1250) was determined by real time PCR and compared between Bama non-long-lived families (BNLF,n=556) and Pingguo longlived families (PLF,n=630).All participants were Zhuang ethnic.Results The TL in buccal cells was negatively correlated with age (R=-0.215,P=0.000) and was independent of sex in all subjects (n=2436).There were no significant differences in TL between males and females in different of ages in BLF (all P＞0.05).Similar tendency was observed in most but not all age groups in the two other families.The TL was significantly longer in BLF aged over 65 years (the first offspring of the longlived individual) than in BNLF aged over 65 years (1.969 vs.1.622,P=0.004) and the TL of BLF aged over 90 years was comparable to that of BNLF aged over 65 years (1.662 vs.1.622,P=0.955),which indicating that the offspring of long-lived individuals inherited longer TL from their parental generation.Conclusions Telomere length is shorten with aging in long-lived families in Bama area.The TL of BLF has a tendency of inheritance,which may be one of the mechanisms of longevity in Bama area.

Objective To determine the reliability of hand-held electronic dynamometer (HHD) tests for lower limb muscle strength measurement in children with spastic cerebral palsy (CP). Methods Twenty-eight children ( 15 boys and 13 girls; mean age 5 years 8 months) with different types of CP (2 with spastic quadriplegia,8 spastic diplegia, 6 hemiplegia, 1 triplegia and 1 monoplegia) , and at different functional levels ( 19 graded at gross motor function classification system level Ⅰ, 6 level Ⅱ, 2 level Ⅲ and 1 level Ⅳ ) were recruited from the Rehabilitation Center of the Children's Hospital of Fudan University. Standardized HHD protocols were used to measure the strength of their hip, knee and ankle muscles. The HHD test was performed by the same examiner twice with an interval of 10 min in between. The HDD test was also performed with 15 randomly selected CP children by 2 examiners with an interval of 10 min in between. The test-retest and inter-rater reliabilities of the HDD readings were determined by calculating the intra- and inter-class correlation coefficients. Results The HHD measurements showed fine testretest reliability ( ICC = 0.74-0.97 ) and inter-rater reliability ( ICC = 0.63-0.97 ) in measuring lower-limb muscle strength of children with spastic CP, with the highest test-retest reliability for the hip flexion, foot plantar flexion and knee extension muscle groups. The highest inter-rater reliability was achieved with the hip flexion and foot dorsiflexion muscle groups. Conclusions Standardized HHD testing of lower-limb muscle strength in children with spastic CP shows fine test-retest and inter-rater reliability. The HHD can reliably assess the lower-limb muscle strength of children with spastic CP.

OBJECTIVE: To diagnose a 46,XN,del(11)(q14q22) fetus by non-invasive prenatal testing (NIPT), karyotype analysis and whole genome sequencing (WGS). METHODS: Peripheral blood sample of the gravida was taken for NIPT screening. Blood samples of the gravida, her husband, and umbilical cord blood were also taken for chromosome karyotyping and whole genome sequencing (WGS). RESULTS: NIPT screening indicated the fetus has carried partial deletion of chromosome 11, while no chromosomal abnormality was found with the cord blood sample due to the low resolution of G-banding analysis. WGS analysis of the cord blood indicated 46,XN,del(11q14.3q22.1). seq[GRCh37/hg19] (90 623 404-97 469 319)×1, 6.85 Mb. The karyotype of the fetus was eventually determined as 46,XN,del(11)(q14q22). Karyotyping analysis suggested that the gravida and her husband were 46,XX,del(11)(q14q22)[8]/46,XX[92] and 46,XY, respectively. However, neither of them was found to harbor the del(11)(q14q22) by WGS. CONCLUSION The abnormal karyotype of the fetus has derived from its mother's low percentage mosaicism. Combined NIPT, karyotyping analysis and WGS can detect chromosomal disorders with accuracy.

OBJECTIVETo study genetic mutations and clinical features of a pedigree affected with MYH9-related disorders from Guangxi.

METHODSBlood platelets were counted with a hemocytometer. Blood smear was carried out to detect the inclusion body in peripheral blood neutrophils. DNA and mRNA samples were extracted from blood samples from the members of the pedigree. Fragments of the MYH9 gene were amplified with PCR and directly sequenced.

RESULTSThe affected individuals presented with a triad of giant platelets, decreased platelet count and inclusion bodies in the neutrophils with variable expressivity. A heterozygous deletional mutation (c.5803delG) in exon 41 of the MYH9 gene was found in all of the 8 affected individuals, which led to a frame-shift and change of 26 amino acids at the C-end of the tail domain of nonmuscle myosin heavy chain IIA (NMMHC-IIA) (p.Ala1935Profs*12). The same mutation was not found among healthy members of the pedigree.

CONCLUSIONThe c.5803delG mutation probably underlies the MYH9-related disorders in this pedigree. The mutation has altered the C-end of the tail domain of the NMMHC-IIA protein, resulting in mild clinical symptoms in the affected individuals.

Adult ; Base Sequence ; China ; Female ; Humans ; Male ; Molecular Motor Proteins ; genetics ; Molecular Sequence Data ; Myosin Heavy Chains ; genetics ; Pedigree ; Sequence Deletion ; Thrombocytopenia ; diagnosis ; genetics

OBJECTIVETo analyze a fetus with abnormal cardiac ultrasound by using various techniques and explore its genotype-phenotype correlation.

METHODSLymphocytes derived from umbilical cord blood sample were subjected to G-banding analysis. Short tandem repeats quantitative fluorescence PCR (STR-QF-PCR) was used for analysis of fetal DNA as an auxiliary test. Low-coverage whole genome sequencing (WGS) was used to detect chromosomal deletion/duplication which exceeded 100 kb in size.

RESULTSThe karyotype of the fetus was 47,XN,+mar. As detected by STR-QF-PCR, the copy number of GATA178F11 locus on chromosome 18 was 4, and the duplicated fragment was derived from the mother. WGS suggested that the fetus to be 46,XN,dup(18p11.21p11.32).seq [GRCh37/hg19](10 001-15 378 887)× 4, with the duplicated fragment spanning approximately 15.38 Mb.

CONCLUSIONThe cardiac malformation of the fetus may be attributed to the partial duplication of chromosome 18p. Combined cytogenetic and molecular methods can facilitate prenatal detection of genetic abnormalities.

OBJECTIVE: To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation. METHODS: The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out. RESULTS: Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR. CONCLUSION Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.

Objective:To investigate the protective effect and mechanism of Acronychia pedunculata water extracts on UV-induced light damage of human keratinocytes.Methods:The experiment was conducted from December 2018 to April 2020 in the Guangxi Medical University Laboratory of Genetics. The photoaged keratinocyte model was used, the cells were co-cultured with different concentrations of Acronychia pedunculata water extracts. The cell proliferation rate was detected by CCK-8 method. The levels of reactive oxygen species (ROS), malondialdehyde (MDA), superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPX) and total antioxidant capacity (T-AOC) of cells were detected by a test kit. The levels of IL-1β, IL-6 and tumor necrosis factor-alpha (TNF-α) were determined by ELISA.Results:The proliferation of HaCaT cells was promoted by 0.5 mg/L-2.0 mg/L of the extracts. Compared with control group, the proliferation rate of HaCaT cells in the experimental group was significantly increased ( P<0.05). Compared with control group, the contents of ROS was decreased ( F=214.67, P<0.05), MDA was decreased ( F=811.88, P<0.05), SOD was increased ( F=28.95, P<0.05), CAT was increased ( F=213.31, P<0.05), GPX was increased ( F=65.10, P<0.05), T-AOC was increased ( F=305.58, P<0.05), IL-1β was decreased ( F=15.46, P<0.05), IL-6 was decreased ( F=59.2, P<0.05), and TNF-α was decreased ( F=33.13, P<0.05). Conclusions:The extracts of 0.5-2.0 mg/L of Acronychia pedunculata have protective effects on the photoaging cell model, which may be related to the increase of SOD, CAT, GPX and other antioxidant enzymes and the level of T-AOC in photoaging HaCaT cells, and the decrease of ROS, MDA content and the expression of inflammatory cytokines.