1.STUDY ON THE EFFECT OF CASEIN HYDROLYSATE ON HYPERTENSIVE RATS
Xia GONG ; Guiyu HAO ; Lanfang WANG ; Bengheng GUO
Acta Nutrimenta Sinica 2004;0(05):-
Objective: To study the effect of casein hydrolysate (CH) on hypertensive rats. Method: Hydrolysate of casein was desalinated by macroporous adsorption resins DA201C. Angiotensin converting enzyme (ACE) inhibitory activity and antihypertensive activity of casein hydrolysate at the dose of 500, 1 000 mg/kg were measured. Results: CH had significant inhibitory activity against ACE (the inhibitory rate 80.1%), and low concentration (500 mg/kg bw?d) had remarkable antihypertensive activity on spontaneously hypertensive rats (SHR), and extremely remarkable at high concentration (1 000 mg/kg bw?d). Conclusion: Casein hydrolysate showed antihypertensive activity in SHR.
2.Study of the relationship between polymorphisms of cytochrome P450 2E1 and antituberculosis druginduced hepatic injury
Yi CHEN ; Mei GUO ; Shiming LI ; Peng ZHANG ; Jinqi HAO ; Bing ZHANG ; Guiyu TANG ; Jianping ZHOU ; Fumin FENG
Chinese Journal of Infectious Diseases 2010;28(12):748-752
Objective To investigate whether the gene polymorphisms of cytochrome P450(CYP) 2E1 are associated with the risk of anti-tuberculosis drug induced hepatotoxity (ADIH).Methods In this case control study, 339 patients who matched the diagnosis criteria of tuberculosis were included. The gcneral healthy status and liver biochemical parameters were checked in all these patients. Polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) technique was used to determine CYP 2Et polymorphisms. The statistic analysis were performed by using both univariate and multivariate Logistic regression analysis. Results The allele frequencies of CYP 2E1 7632T/A, 1019C/T and 1259G/C in 103 tuberculosis patients of ADIH group were 17.5%, 26.2%and 27.2 % respectively, while those in 236 tuberculosis patients of control group were 29.7 % ,39.4 %and 40.7%, respectively (x2 =5.539, P<0.05; x2 =5.458, P<0.05; x2 =5.628, P<0.05). The results of univariate analysis demonstrated that the risk of concurrent ADIH was significantly higher in patients with wild genotypes of CYP 2E1-7632T/A, CYP 2E1-1259G/C, CYP 2E1-1019C/T than in patients with other genotypes. After adjusted for sex, occupation and alcohol consumption status, the results of multivariate Logistic regression analysis also showed that wild genotypes of CYP 2E1-7632T/A, CYP 2El-1259G/C, CYP 2E1-1019C/T were significantly associated with higher risk of ADIH. The results of interaction analysis indicated that the wild genotypes of CYP 2E1-7632T/A and CYP 2E1-1259G/C or CYP 2E1-1019C/T had synergetic effects on the development of ADIH.Conclusions The risk of concurrent ADIH is significantly higher in patients with wild genotypes of CYP 2E1-7632T/A, CYP 2E1-1259G/C, CYP 2E1-1019C/T compared to patients with othergenotypes. Wild genotypes of CYP 2E1-7632T/A and CYP 2E1-1259G/C or CYP 2El-1019C/T have synergetic effects on the development of ADIH.
3.Prognostic value by combination of angiographic and clinical characteristics in stenting patients with unprotected left main coronary artery lesion
Huiming YE ; Jianjun PENG ; Lihui REN ; Yanna LU ; Hao JIANG ; Ping WANG ; Guiyu XU ; Fu GUAN ; Shuixiang YANG
Chinese Journal of Geriatrics 2012;31(6):454-457
Objective To compare the predicting values for Prognosis among Global Risk Classification (GRS),Synergy Between Percutaneous Coronary Intervention With TAXUS and Cardiac Surgery (SYNTAX) score,the European System for Cardiac Operative Risk Evaluation (EuroSCORE) in patients who received stenting because of unprotected left main coronary artery (ULMCA) lesion.Methods Totally 105 successive elderly patients with ULMCA lesion who received stenting were divided into 2 groups:with and without main adverse cardiac events (MACE).The clinical and angiographic characteristics were analyzed and then compared among GRC,SYNTAX score and EuroSCORE.Results As compared with none MACE group,MACE group had higher EuroSCORE score (2.0±2.3 vs.6.5±2.9,t=8.18,P=0.002),and more trivessel disease and left main bifurcation lesion (x2 =8.96,6.96,P =0.011,P =0.008).High risk GRC showed more MACE than medium or low risk GRC [55.9% (19/34) vs.20.5%(9/44),7.4% (2/27),x2 =19.77,P=0.001].AUC(95%CI )of GRC,SYNTAX score and EuroSCORE were [0.821 (0.730-0.912),0.586(0.462-0.709) and 0.631 (0506-0.757)],respectively.Compared with SYNTAX score and EuroSCORE,GRC was superior in the MACE predicting value (Z=3.29,2.63,P<0.01 or P<0.05).
4.Prenatal diagnosis of partial trisomy 3q in a fetus.
Ning SU ; Guiyu LOU ; Hongdan WANG ; Bingtao HAO ; Shixiu LIAO
Chinese Journal of Medical Genetics 2019;36(8):813-816
OBJECTIVE:
To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality.
METHODS:
Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis.
RESULTS:
The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal.
CONCLUSION
3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.
Chromosomes, Human, Pair 3
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genetics
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Comparative Genomic Hybridization
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Female
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Fetus
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Humans
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Karyotyping
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Male
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Pregnancy
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Prenatal Diagnosis
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Trisomy
5.Identification and analysis of anovel variant of TRAPPC2 in a X-linked spondyloepiphyseal dysplasia tarda pedigree
Wenyu ZHANG ; Ke KANG ; Yuwei ZHANG ; Qiaofang HOU ; Litao QIN ; Hongyan LIU ; Bingtao HAO ; Ke YANG ; Shixiu LIAO ; Guiyu LOU
Chinese Journal of Orthopaedics 2022;42(5):313-319
Objective:To provide experimental evidence for genetic counseling and prenatal diagnosis by analyzing the clinical characteristics, screening and identification of the function of suspicious variants in a X-1inked spondyloepiphyseal dysplasia tarda (SEDT) family.Methods:The family members' medical history, general physical examination, femur, spine X-ray examination were collected. Peripheral blood samples of the family members were collected and DNA was extracted from these samples. Sequencing clinical whole exons of proband DNA by targeted gene high-throughput sequencing method, then analysis sequencing data. The suspicious mutation was confirmed in pedigree members by PCR and Sanger sequencing. Reverse transcription polymerase chain reaction (RT-PCR) experiments of total RNA from blood lymphocytes were performed. The amplification of exons 3 and 4 of the pathogenic gene were amplified and identified by agarose gel. The expression of the pathogenic gene was also detected.Results:Three affected males of the family were diagnosed with SEDT according to their clinical and radiological features. A nonsense mutation in the transport protein particle complex subunit 2 ( TRAPPC2) gene NM_001011658: c.91A>T (p.K31*) was found in the proband using whole exome sequencing. This variation was also detected in his cousin, but not in non-phenotypic members of the family. The RT-PCR result for amplification of exon 3 and 4 of peripheral blood lymphocytes was the same as those of normal controls, indicating that the mutation did not affect the splicing of transcripts. qPCR results showed that the transcriptional expression of TRAPPC2 in patients was significantly lower than that in family normal controls and normal people controls. Conclusion:Identification of the novel nonsense mutation (c.91A>T) in the SEDT family enables early patients screening, carrier detection, genetic counseling, prenatal diagnosis, and clinical prevention and treatment. The detailed genotype/phenotype descriptions contribute to the SEDT mutation spectrum. The study of the function of TRAPPC2 mutation will help to further elucidate the role of sedlin in cartilage.
6.Genetic diagnosis in two families with dystrophic epidermolysis bullosa
Li WANG ; Zengguo REN ; Guiyu LOU ; Yuwei ZHANG ; Ke YANG ; Xingxing LEI ; Bing ZHANG ; Shixiu LIAO ; Bingtao HAO
Chinese Journal of Dermatology 2023;56(8):770-773
Objective:To analyze clinical characteristics of and causative genes in two families with dystrophic epidermolysis bullosa, and to reveal the pathogenesis of the disease and mechanisms underlying phenotypic differences between patients.Methods:DNA was extracted from peripheral blood samples of members from two families with dystrophic epidermolysis bullosa, and subjected to high-throughput sequencing and Sanger sequencing.Results:The clinical manifestations of the 2 probands in the 2 families were consistent with the diagnosis of dystrophic epidermolysis bullosa, and the symptoms of the proband in family 1 were more serious than those of other patients in the family. Genetic testing showed that all patients in family 1 carried a mutation c.6082G>C (p.G2028R) in the COL7A1 gene, and the proband and her phenotypically normal mother and uncle also carried a splice-site mutation c.7068+2 (IVS91) T>G in the COL7A1 gene, both of which were first reported. The proband in family 2 carried the mutations c.6081_6082 ins C (p.G2028Rfs*71) and c.1892G>A (p.W631X, first reported) in the COL7A1 gene, which were inherited from her father and mother, respectively.Conclusion:The two pathogenic mutations may be the molecular mechanism underlying the severe clinical phenotype in the proband in family 1; the first reported mutations enriched the mutation spectrum of the COL7A1 gene.