ObjectiveTo study the molecular genetic mechanism of para-bombay phenotype in two individuals.MethodsThe proband was a female.When the proband donated blood,because the forward blood group wasn't coincident with her reverse blood group,the blood and saliva specimen from proband and her family members were sent to Guangzhou Blood Center for further identification.Routine serological techniques were used to determine proband's and her family members' blood group and ABH antigen in saliva.The coding regions of FUT1 and FUT2 gene,exon 6 and exon 7 of ABO gene were amplified by polymerase chain reaction using proband's and her family members' genomic DNA.All amplified products were analyzed after being directly sequenced.The two-base deletion regions of FUT1 gene were certified by cloning and haplotype sequencing.Results Proband's and her little brother's blood group were identified as para-bombay while other family members' blood group were normal.Two-base deletion heterozygous mutations of FUT1 gene were found in proband and her brother,AG deletion at position 547-552 and TT deletion at position 880-882,which caused a reading frame shift and a premature stop eodon.Meanwhile,880-882del TT heterozygous mutation was found in proband's grandfather and her father and 547-552del AG heterozygous mutation was found in proband's mother and her little sister.ResultsOf cloning and haplotype sequencing certified that these two-base deletion mutations occurred at 547-548 and 881-882 position respectively.Three new mutations were found in FUT2 gene,390C ＞ T,418A ＞ T and 749G ＞ A,which could cause the change of amino acid at position 140Ile ＞ Phe and 250Arg ＞ Gln.Conclusions Two-base deletion heterozygous mutations in different positions in FUT1 gene were found in 2 individuals,which maybe the molecular genetic mechanism of para-bombay phenotype.Heterozygous deletion mutation in one-strand DNA wouldn't change the ABO blood group.Three new mutations were also found in FUT2 gene.( Chin J Lab Med,2012,35:815-819)

Hepatitis, Viral, Human ; drug therapy ; Humans ; Prostaglandins E ; therapeutic use ; Randomized Controlled Trials as Topic ; Research Design

Objective To explore the relationship between the endemic arsenism and the liver,renal damage.Methods Some permanent residents were selected as investigated subjects who lived at 3 villages in Datong in Shanxi Province,an arseniasis-endemic areas,These objects were divided into arsenic poisoning and control group on the basis of Diagnosis Standard for Endemic Arsenism(WS/T 211-2001).Then blood and urine samples were collected in the surveyed people.Serum glutamate pyruvic transaminase(ALT)were detected by Enzyme-linked immunosorbent assay as the indicator of the impaired hepatic function.The microdosis albumen (mAlb)and acetylglucosaminidase(NAG)in urine were detected by end-point method and alkaline picric acid as the renal damage indicators.Results A total of 661 people investigated,of which 144 cases were arsenic poisoning patients.The rates of abnormal liver function were significant hisher in arsenic poisoning group[10.42% (15/144)]than that in control[5.22%(27/517)],and both wag significant[X2=5.107,P＜0.05;OR=2.11,95%CI (1.09-4.08)].The geometric mean of mAlb/Ucr was 2.16 mg/g Cr in control,and 2.31 mg/g Cr in arsenic poisoning group,and both was not significant(t=-1.71,P＞0.05).The geometric mean of NAG waft higher in arsenic poisoning group(2.43 U/g Cr)than that in the control(2.22 U/g Cr),and both was significant(t=-3.55, P＜0.05).Conclusions The damage of the liver and renal function were related with endemic arsenism,and NAG is the early indicators suggesting impaired renal function due to endemic arsenism.

Renal transplant (RT) recipients have a high risk of developing cardiovascular diseases.However,the effects of renal transplantation on the development of arteriosclerosis have been controversial.The carotid intima-media thickness (CIMT) and diameter (CD) are important indicators of vascular remodeling and arteriosclerosis.In this study,31 patients with hemodialysis (HD),31 RT recipients and 84 age-and gender-matched control subjects were enrolled.Their CIMT and CD were measured by ultrasonic radiofrequency tracking,and the linear regression models and Z test were used to identify the progression of arteriosclerosis and the risk factors.Compared with HD group,RT group had significantly lower CIMT and CD.CIMT was found to be associated with age,body weight,resistance index and diastolic velocity,while CD was associated significantly with age,body weight,pulsatility index,end diastolic velocity and diastolic blood pressure (DBP),respectively.The correlation curves between CIMT and age showed the slopes of curves were decreased successively in control,RT and HD groups,and the curves between CD and age showed the slopes were decreased in order of RT ＞ control ＞ HD groups.It was concluded that CIMT and CD were significantly correlated with age in RT and moderately with age in HD patients.RT could reduce the progress of arteriosclerosis in patients with end-stage renal disease.

Asian People/genetics* ; Gene Frequency ; Genetics, Population ; Humans ; Microsatellite Repeats/genetics* ; Phylogeny ; Polymorphism, Genetic/genetics*

In the criminal cases of driving under the influence (DUI), DNA evidence can be collected from the deployed airbag of the motor vehicle and submitted to the crime lab for touch DNA analysis. The evidence can be acquired when the skin cells are observed on the surface of the airbag in a traffic accident. However, the low quantity or quality of the evidence collected from a crime scene prevents further identification analysis in many cases. In the current study, we reported a case of identifying touch DNA extraction from the shed skin cells from the deployed airbag of a motor vehicle. We managed to collect DNA evidence from the shed skin cells in an airbag using a proper approach of collection and extraction. The 5.87 ng of extracted DNA was sufficient for genotyping and forensic identification, which helped to identify the driver of the car in collision with a pier in the street. In DUI cases and other traffic accidents, therefore, the amount of touch DNA extracted from the deployed airbag can be sufficient for DNA marker genotyping and further analysis.
Accidents, Traffic ; Air Bags ; Alcoholic Intoxication ; Crime ; DNA/analysis* ; Genotype ; Humans ; Motor Vehicles ; Skin/cytology* ; Touch

OBJECTIVE: To compare the concentration of teeth DNA extracted by three different pretreatment methods and to explore a simple, economical and practical pretreatment method with high concentration of extracted DNA from teeth. METHODS: A total number of 21 molars were collected from 7 corpses. The pretreatment of 3 molars from each individual was randomly performed by tooth crumb method, ball-milling method and liquid nitrogen milling method and 50 mg tooth crumb was weight and DNA was extracted by AutoMate Express forensic DNA extraction system. Subsequently, the concentration of DNA and corresponding STR genotyping of three methods were compared. RESULTS: The DNA concentration extracted by tooth crumb method, ball-milling method and liquid nitrogen milling method was 0.055 6-1.989 1 ng/μL, 0.036 6-1.175 6 ng/μL and 0.037 8-1.249 0 ng/μL, respectively. The DNA concentration obtained by tooth crumb method was higher (P < 0.05) and the success rate of STR genotyping was high. CONCLUSION Combined with AutoMate Express forensic DNA extraction system, tooth crumb method is an efficient and feasible method to extract DNA from teeth, which can be applied in forensic practice.
DNA/isolation & purification* ; DNA Fingerprinting/methods* ; Genotype ; Humans ; Tooth

Objective To investigate the prevalence for endemic fluorosis of drinking water type and to discuss the relationship between endemic fluorosis and urinary fluorine in Linyi county, Shanxi province. Methods In 2006, three counties were selected as heavy, medium and control areas according to the distributing feature of the disease. The dental fluorosis in each spots was examined by Dean method. The levels of urinary fluorine were determined by fluorine selective ion electrode. The skeletal fluorosis of adults were examined by X-ray. Results There was evident differences of dental fluorosis and skeletal fluoresis among the heavy and the medium endemic fluorosis and control areas(X~2 = 410.945, P < 0.01 ), the prevalence of dental fluoresis in the medium area and the heavy area were 92.34% (253/274), 90.09% ( 291/323), significantly higher than in the control area[23.27% (64/275), X~2 = 274.927,268.287, all P < 0.01]. The heavy area had the highest rate of the skeletal fluorosis rate [59.75% (141/236) ], the medium area had the middle-level of the skeletal fluorosis rate[24.76%(52/210), X~2 = 183.578, P< 0.01]. Urine fluorine contents in both beavy[ (4.69 ± 0.17)mg/L] and medium areal (4.86 ± 0.13)mg/L] were higher than that in the control areas[ (1.75 ± 0.04)mg/L, H = 411.197, P< 0.01], and there was linear relevance between the different degree of skeletal fluorosis and urine fluorine contents (r = 0.508, P < 0.01). Conclusions The local fluoresis condition of Linyi county in Shanxi province was serious. The degree of skeletal fluorosis is associated with the fluoride content in urine.

Objective To investigate the feasibility and accuracy of dual energy CT myocardial iodine maps in detecting acute myocardial infarction in canine model. Methods Myocardial ischemia model was made by ligaturing left anterior descending coronary arteries (LAD) after thoracotomy in six dogs, while another 3 dogs undergoing thoracotomy not ligaturing LAD as control group. Before and three hours after operation, dual-source CT (DSCT) was performed, followed by resting 99Tcm-MIBI single photon emission computed tomography myocardial perfusion imaging. Then, dogs were sacrificed, and the hearts were removed, triphenyltetrazolium chloride staining and conventional HE staining were performed. CT number of non-ischemic and ischemic regions were measured and analyzed. The wall of the left ventricle in the short axis was divided into 17 segments, the segments of myocardial perfusion defect in DSCT myocardial iodine maps, SPECT, and pathology were determined. Student t test was used to analyze the difference of CT number between infarcted and non-infarcted myocardium. Kappa test was used for the accuracy of DSCT myocardial iodine maps and SPECT in detecting myocardial ischemia according to the pathological results. Results No abnormal regions were detected using DSCT myocardial iodine maps in preoperative control and infarction group. After thoracotomy, partial sparse or defective perfusion was consistently noted in six dogs' apical anterior and partition wall in both DSCT myocardial iodine maps and SPECT. In the infarcted group, the attenuation of infarction region (34.75 ± 16.66) HU was significantly decreased compared with preoperative measurements ( 123. 18 ± 15.38 ) HU ( t = 10. 526, P ＜ 0. 01 ); decreased perfusion in the infarcted region was also noted in the DSCT myocardial iodine maps and SPECT. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of DSCT myocardial iodine maps and SPECT were 85.0% (34/40) , 84. 1% (95/113) ,65.4% (34/52) ,94. 0%(95/101) ,and 82. 5% (33/40), 90. 3% ( 102/113 ) ,75.0% (33/44) ,93.6% ( 102/109 ), respectively.Kappa values were 0. 63 and 0. 71 for the agreement of DSCT myocardial iodine maps and SPECT.Conclusion DSCT myocardial iodine maps is comparable diagnostic accuracy with rest SPECT myocardial perfusion imaging in detection of acute myocardial infarction in a canine model.

OBJECTIVE: To investigate the leukotriene D4 synthase gene A (LTD4S A)-444 C polymorphism in persistent allergic rhinitis (AR) of Chinese Han nationality and to evaluate its relevance to clinical responsiveness of leukotriene receptor antagonist. METHOD: There were 150 patients [87 males, 63 females, average age (38 +/- 14)] diagnosed with persistent AR in Allergy clinic in our hospital from March 2010 to March 2012; 146 healthy controls (78 males, 68 females, mean age (39 +/- 12)). We detected LT D4SA-444C polymorphism and allele frequencies with Polymerase Chain Reaction (PCR) and-Restriction Fragment Length polymorphism (RELP). The treatment group received monotherapy leukotriene receptor antagonist (montelukast) for 4 weeks. Urinary leukotriene D4 (LTD4) levels were detected by enzyme-linked immunosorbent assay (ELISA) before and after treatment, respectively. We evaluated anti-leukotriene treatment response according to the changement of symptoms, signs PTS and urinary LTD4. We tested correlation between LT D4S gene-444C allele frequency and the treatment response by multivariate analysis of variance. RESULT: (1) LTD4S gene-444 genotype AA/CC, AC/CC frequency is 70.7% (106/150) and 29.3% (44/150), allele A, C frequencies is 67.3% (101/150) and 32.7% (49/150) in AR group, and LTD4S gene-444 genotype AA/CC, AC/CC frequency is 76.7% (112/146) and 23.3% (34/ 146), allele A, C frequencies is 74.0% (108/146) and 26.0% (38/146) in healthy control group, there is not statistically significant difference between two groups. (2) Among 150 AR patients, compared to patients with AA/CC genotype, the genotype AC/CC patients are younger [average age (35 +/- 9), and (50 +/- 18) respectively, F = 5.891, P < 0.05], with earlier age of onset [(31 +/- 4), and (46 +/- 6) respectively, F = 6.985, P < 0.05], longer course of disease [(8.7 +/- 2.1), and (3.1 +/- 2.0) respectively, F = 11.43, P < 0.05], higher symptom scores (8.2 +/- 0.2; 4.8 +/- 0.3), higher signs score (7.3 +/- 3.3; 3.4 +/- 5.1), and the difference was statistically significant. (3) After 4 weeks of montelukast treatment in AR patients, treatment response of anti-leukotriene in genotype AC/ CC patients is better than those in AA/CC genotype patients (F = 11.01, P < 0.05), the differences of treatment response between two groups were correlated with LTD4 levels in vivo, clinical symptoms and signs of patients. CONCLUSION In a Chinese Han population the LTD4SA-444B polymorphism might be one of the factors in the clinical response to leukotriene receptor antagonists in persistent AR patients.
Adult ; Arachidonate 5-Lipoxygenase ; genetics ; Case-Control Studies ; Female ; Gene Frequency ; Humans ; Leukotriene Antagonists ; therapeutic use ; Male ; Middle Aged ; Polymorphism, Genetic ; Rhinitis, Allergic ; drug therapy ; genetics ; Young Adult