Aged ; Female ; Humans ; Lymphoma, Large B-Cell, Diffuse ; pathology ; Urinary Bladder ; pathology

We were introducing a log-linear model for case-parent triad study.Data from a previous study of the association between MTHFR C677T aud cleft lip with or without cleft palate (CL/P) was analyzed,in order to investigate the maternal effect,fetal effect and their interaction,using a series of log-linear models.Our results showed that mothers who were carrying two copies of MTHFR C677T variant alleles appeared to have reduced the risk of CL/P in offspring,comparing to those with homozygous of wild-type allele.With S2=0.43 (95％ CI:0.19-0.95).No significant association was found for fetal genotype and maternal-fetal iuteraction with CL/P.Log-linear model method seemed to be useful in the estimation of maternal effect,fetal effect and maternal-fetal interaction,in the case-parent triad study design.This approach showed specific benefit in studies that related to genetic effects on complex diseases such as pregnancy complications and diseases originated from fetus.

Antiviral Agents ; adverse effects ; therapeutic use ; Female ; Hepatitis C, Chronic ; complications ; drug therapy ; psychology ; Humans ; Interferon-alpha ; adverse effects ; therapeutic use ; Mental Disorders ; complications ; Middle Aged

To investigate the molecular genetics basis for one para-Bombay phenotype, the red blood cell phenotype of the proband was characterized by standard serological techniques. Exon 6 and 7 of ABO gene, the entire coding region of FUT1 gene and FUT2 gene were amplified by polymerase chain reaction from genomic DNA of the proband respectively. The PCR products were purified by agarose gels and directly sequenced. The PCR-SSP and genescan were performed to confirm the mutations detected by sequencing. The results showed that the proband ABO genotype was A(102)A(102). Two heterozygous mutations of FUT1 gene, an A to G transition at position 682 and AG deletion at position 547-552 were detected in the proband. A682G could cause transition of Met-->Val at amino acid position 228, AG deletion at position 547-552 caused a reading frame shift and a premature stop codon. The FUT2 genotype was heterozygous for a functional allele Se(357) and a weakly functional allele Se(357), 385 (T/T homozygous at position 357 and A/T heterozygous at 385 position). It is concluded that the compound heterozygous mutation--a novel A682G missense mutation and a 547-552 del AG is the molecular mechanism of this para-Bombay phenotype.
ABO Blood-Group System ; genetics ; China ; DNA Mutational Analysis ; Female ; Fucosyltransferases ; genetics ; Genotype ; Humans ; Male ; Mutation ; Mutation, Missense ; Pedigree ; Phenotype ; Sequence Deletion

BACKGROUNDDelayed graft function (DGF) is common in kidney transplants from organ donation after cardiac death (DCD) donors. It is associated with various factors. Determination of center-specific risk factors may help to reduce the incidence of DGF and improve the transplantation results. The aim of this study is to define risk factors of DGF after renal transplantation.

METHODSFrom March 2010 to June 2012, 56 cases of recipients who received DCD kidneys were selected. The subjects were divided into two groups: immediate graft function (IGF) and DGF groups. Transplantation factors of donors and recipients as well as early post-transplant results of recipients were compared between the two groups.

RESULTSOn univariate analysis, preoperative dialysis time of recipients (P < 0.001), type of dialysis (P = 0.039), human leucocyte antigen (HLA) mismatch sites (P < 0.001), the cause of brain death (P = 0.027), body mass index (BMI) of donors (P < 0.001), preoperative infection (P = 0.002), preoperative serum creatinine of donors (P < 0.001), norepinephrine used in donors (P < 0.001), cardiopulmonary resuscitation (CPR) of donors (P < 0.001), warm ischemia time (WIT) (P < 0.001) and cold ischemia time (CIT) (P < 0.001) showed significant differences. Recipients who experienced DGF had a longer hospital stay, and higher level of postoperative serum creatinine.

CONCLUSIONMultiple risk factors are associated with DGF, which had deleterious effects on the early post-transplant period.

Adolescent ; Adult ; Aged ; Case-Control Studies ; Death ; Delayed Graft Function ; etiology ; Female ; Humans ; Kidney Transplantation ; adverse effects ; Male ; Middle Aged ; Retrospective Studies ; Risk Factors ; Tissue Donors

Recently, intracytoplasmic sperm injection (ICSI) has been extremely successful in the treatment of male infertility. However, the consequent transmission of sperm cytogenetic defects and genetic defects to the offspring has aroused considerable concern. Among infertile men, those with severe spermatogenic defects, including oligozoospermia and azoospermia, are mostly the subjects for ICSI. Therefore it is very important to obtain cytogenetic and chromosomal information on these infertile patients and prevent the inheritance of these genetic defects. This review offers an analysis on the genetic defects among infertile men.
Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; therapy ; Male ; Seminal Plasma Proteins ; genetics ; Sperm Injections, Intracytoplasmic

RHD gene has different alternative transcripts. This study was aimed to construct expression vector of normal mRNA, DEL9 and DEL89 transcripts from RHD gene. Total RNA was extracted from Rh(D) positive umbilical blood cells of newborn. Intact RhD cDNA, DEL9 and DEL89 transcripts were obtained by one-step and two-step RT-PCR, respectively. The obtained products were cloned into pCR4 TOPO sequencing vector for choosing the right transcript. RHD gene was amplified again from the sequencing plasmid DNA, and then subcloned into pcDNA3.1/V5-His TOPO expression vector; DEL9 and DEL89 were cloned into the expression vector directly. Gene sequence and direction were identified by sequencing. The results showed that the sequence and direction of target genes were right, thus these 3 different expression vectors were correctly constructed. It is concluded that expression vector is constructed from different transcripts of RHD gene, which lays a foundation for further exploring the membranous protein expression of Rh(D) antigen.
Cloning, Molecular ; Gene Expression ; Genetic Vectors ; Humans ; Molecular Sequence Data ; RNA, Messenger ; genetics ; Rh-Hr Blood-Group System ; genetics ; Sequence Analysis, DNA

Objective Using flowing injection hydride generation atomic fluotometric method(FI-HG- AFM)to detect the whole blood selenium content.Methods A series of standard selenium(1,2,4,6,8.10μg/L) were dectecte by FI-HG-AFM,and the precision and accuracy of the method were observed.The selenium contents of 89 blood samples were detected by FI一HG-AFM and 2,3-diaminonaphthalene fluorometric method(DFM) respectively,and the correlation of two methods Was analyzed.Results The detection limit and recovery rate of FI-HG-AFM were 0.138μg/L and 96.4%,respectively.The relative standard deviation(RSD)was maximized at 1 μg/L(4.406%).The RSD diminished along with the increase of the concentration,and it declined to 0.512%at 10 μg/L.There wag no significant difference(t=1.7878,P>0.05)between the result8 of FI-HG-AFM[(45.9± 14.5)μg/L]and DFM[(47.5 ±13.3)μg/L],and the two methods were in highly positive correlation(r=0.8143,P< 0.01).Conclusions The whole blood selenium content call be rapidly and exactly detected by FI-HG-AFM,and the method are highly consistent with DFM.

Objective To investigate the myocardial damage in rats fed with corn from Keshan disease area added with bean puree. Methods Male Wistar rats were randomly divided into 3 groups according to their body weights, and fed with corn, corn from Keshan disease area added with bean puree, corn from non-endemic area. The GSH-Px activity of vena cardalis blood was examined in 1 and 3 months, rats were sacrificed after being fed for 6 months to examine the heart changes with HE stain. Results The three groups of GSH-Px activity were different in 1 and 3 months respectively(F=23.60,72.46, all P<0.01); GSH-Px activity was (181.58±22.15), (44.76±28.59)U/L in rats fed with corn, was (195.03±17.66), (30.38±3.35)U/L in those fed with corn added with bean puree from Keshan disease area, lower than the group fed with corn of non-endemic area[(340.90±95.42), (125.17±13.64)U/L, all P < 0.01]. But the difference of GSH-Px activity between simple corn group and corn adding bean puree groups of Keshan disease area was not obvious(P>0.05). Myocardial damage incidence of the three groups was 3/9,1/9,2/7. Difference among three groups did not have statistical significance(χ2=1.33, P> 0.05). Conclusions Only corn from Keshan disease area may induce myocardial damage pathology change. Adding bean puree into corn does not increase damage.

OBJECTIVEAlthough HIV-1 infection is prevalent in many regions in China, it remains largely unknown on the biological characteristics of dominant circulating isolates. This study was designed to isolate the circulating viral strains from different prevalent regions and to characterize their biological properties and neutralization sensitivity.

METHODSPrimary viruses were isolated from fresh PBMCs using the traditional co-culture method and their capacity of inducing syncytium was tested in MT-2 cells. Meanwhile, their coreceptor usage was determined with two cell lines: Magi and GHOST (3) stably expressing CD4 and the chemokine receptor CCR5 or CXCR4. Furthermore, the sensitivity of these viruses to neutralization by HIV-1-infected patients' plasma which were highly active to neutralize SF33 strain, was quantified in GHOST cell-based neutralization assay.

RESULTSSix primary viral strains were isolated from 4 separated regions. Isolates LTG0213, LTG0214 and XVS032691 induced syncytia in MT-2 cells, and used CXCR4 as coreceptor. Isolates XJN0021, XJN0091, or SHXDC0041 did not induce syncytia, and used CCR5 as coreceptor. Overall neutralization sensitivity differed among four representative strains: HIV-1 XVS032691 > LTG0214 >XJN0091 approximately SHXDC0041.

CONCLUSIONThe neutralization sensitivity of HIV isolates is linked with the phenotype of isolates, in which syncytium-inducing (SI) or CXCR4-tropic (X4) viruses are more easily neutralized than non-syncytium-inducing (NSI) or CCR5-tropic (R5) viruses. The genetic subtypes based on the phylogeny of env sequences are not classical neutralization serotypes.

CD4-Positive T-Lymphocytes ; metabolism ; Cell Line ; Cells, Cultured ; Chemokines ; genetics ; immunology ; China ; Coculture Techniques ; methods ; Giant Cells ; ultrastructure ; virology ; HIV Infections ; virology ; HIV Seropositivity ; genetics ; immunology ; HIV-1 ; immunology ; isolation & purification ; physiology ; Humans ; Neutralization Tests ; Receptors, CCR5 ; metabolism ; Receptors, CXCR4 ; metabolism ; Virus Replication