The characteristics of polysomnographic values and synchronous blood pressure in patients of obstructive sleep apnea with hypertension / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the differences of sleep respiratory parameters recorded by PSG and synchronous blood pressure measured by ambulatory blood pressure monitor between obstructive sleep apnea (OSA) patients with hypertension (HT) and simple OSA and simple HT; To determine the characteristics of sleep respiratory parameters and blood pressure changes in patient with OSA accompanied HT.@*METHOD@#We chose the patients who were diagnosed simple HT (n=45) and simple OSA (n=50) and OSA with HT (n=56), Compared the sleep respiratory parameters and blood pressure changes between the three groups. Meanwhile the correlations about the sleep respiratory parameters and synchronization blood pressure were analyzed.@*RESULT@#Compared with simple HT and simple OSA, OSA with HT has higher apnea hyponea Index (AHI) (P<0. 001), oxygen desaturation index (ODI), awake index (AI), wake after sleep onset (WASO) and the proportion of non-rapid eyemovement sleepl (N1) in total sleep time(TST), has lower mean arterial oxygen saturation (MSaO2), lowest arterial saturation oxygen (LSaO2), the proportion of slow wave sleep (SWS) and rapid eyemovement sleep (REM) in TST (P<0. 05). There were positive correlations between the systolic/diastolic blood pressure (SBP/ DBP) and AHI, ODI, AI, WASO and N1/TST (P<0. 05). Compared with simple OSA, the mean day systolic blood pressure (dMSP), mean night systolic blood pressure (nMSP), mean day diastolic blood pressure (dMDP), mean night diastolic blood pressure (nMDP) and mean night diastolic blood pressure (nMDP) were significantly decre- sed, meanwhile the difference between the average systolic/diastolic blood pressure day and night were significantly increased after continuous positive airway pressure (CPAP) treatment. OSA with HT has higher There were negative correlations between the SBP/DBP and MSaO2, LSaO2 (P<0. 05). Blood pressure mainly changed in the later sleep stage when the REM phase was increased. Blood pressure changes were characteristic of increasing DBP and decreasing SaO2.@*CONCLUSION@#There are significant differences between simple OSA and OSA with HT in the sleep respiratory parameters, which are closely related with changes of blood pressure in sleep stage; AHI is the high risk factor of the OSA with HT. PSG is a effective factor in estimating the OSA accompanied HT course of development and prognosis.

Clinical study on efficacy of nasal surgical expansion as a basic operation in treatment of patients with OSAHS / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To observe the clinical effect of nasal surgical expansion as basical surgical treatment of patients with OSAHS.@*METHOD@#A total of 320 patients with OSAHS were retrospectively analyzed. The patient was diagnosed by PSG. The electronic nasopharyngolarygnoscope exam airway CT, and MRI were applied to determining the nasal plane block. According to the concrete reasons, the nasal endoscopic nasal septum corrective surgery and open surgery were carried out, respectively. Nasal sinus neoplasm resection of off shoring, inferior turbinate fracture surgery or inferior turbinate back-end 1/3 line expansion and low temperature plasma ablation of nasal surgery, respectively. Pittsburgh sleep quality index (PSQI), snore outcome survey (SOS), epworth sleepiness score (ESS), the lowest arterial oxygen saturation (LSaO2) and AHI, time and ratio of slow wave sleep (SWS) stage and rapid eye movement (REM) stage were applied to comparing the curative effect between pre-operation and post-operation periods.@*RESULT@#Snoring, sleep apnea, subjective mental symptoms of all patients with OSAHS were improved after operation; PSQI, SOS and ESS score were improved compared to pretreatment (P < 0.05); according to the 2009 OSAHS diagnosis and curative effect evaluation standard, 38 cases cured, 189 cases had obvious effect, 93 cases effective, and the total effective rate was 100%; there was statistical difference between the pre-operative period and 6 months post-operative in PSQI, SOS and ESS, LSaO2, AHI and proportion of REM (P < 0.05); sleep structure was improved, time and proportion of SWS were increased after the operation (P < 0.05).@*CONCLUSION@#Solving the problem of nasal airway obstruction is the first step in surgical treatment of patients with OSAHS.

Change of AHI and ODI in OSAHS patients with different sleep body positions / 中国耳鼻咽喉头颈外科

[ABSTRACT]OBJECTIVETo assess the sleep body position's effects on AHI and ODI during sleep in obstructive sleep apnea hypopnea syndrome (OSAHS) patients with different severity.METHODSThe clinical data of 113 subjects who had been diagnosed OSAHS or normal by polysomnography (PSG) between 2013 and 2014 in our department were retrospectively studied. They were divided into normal control group (AHI30/h, 40 patients). PSG data of AHI and ODI in different body position in each group were further analyzed.RESULTSIn normal group, The AHI and ODI in supine position were significantly higher than that in the left or right lateral position, and the difference between the left and right lateral position was not significant. In the mild to moderate OSAHS group, the AHI and ODI in supine were higher than that in the left lateral position slightly, while the data in supine was higher than that in the right lateral position significantly. In the severe group, the data between the supine and the left lateral position was not statistically different, while the supine position data was higher compared with that of the right lateral position. CONCLUSIONAHI and ODI were higher in supine position than that in lateral position, while the AHI and ODI in right lateral position is higher than that in left lateral position in OSAHS patients with different severity. The ODI and AHI are consistent in reflecting the severity of the OSAHS.

Evaluation of Genetic Markers in a Novel Diagnostic Strategy for Trisomy Based on Short Tandem Repeats / 现代生物医学进展

Background:In the newly published article,we presented a novel STR-based diagnostic strategy for trisomy.When applying the strategy to the detection of the copy number of the selected chromosome,it is necessary at first to construct a multi-marker diagnostic system for trisomy by selecting the optimal chromosome-specific STR markers from numerous STR polymorphisms in human genome.Objective:Attempting to provide a reliable method for selecting optimal STR markers to construct a diagnositic system of high efficiency,in this study,we further described the quantitative evaluation of single STR marker and multimarker system during the marker selection.Methods:We deduced the formulae of three-allele detection rae(TDR)and the probability that three different alleles are observed in a diagnostic system.(P),by which we can quantitatively evaluate efficacy of a STR marker and cumulative efficacy of a multi-marker diagnostic system.Furthermore,we applied them to a multi-marker diagnostic system for trisomy 21 which was constructed in the previous study.Results:The TDR values of nine STR markers in our diagnostic system for trisomy 21 ranged from 0.203 to 0.638.The probability that three different alleles are observed in the system is above 0.95.Conclusion:The numerical values obtained from the formulae can provide a basis for the selection of optimal STR markers and the determination of the number of STR markers needed in a system with high efficacy.

Genetic polymorphisms of fifteen short tandem repeat loci in Chengdu Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To acquire the population genetic data of fifteen short tandem repeat (STR) loci in Chengdu Han population.</p><p><b>METHODS</b>A total of 210 EDTA-blood specimens were collected from the unrelated individuals in Chengdu Han population. The DNA samples were extracted with Chelex method and amplified by multiplex PCR technique. The PCR products were analyzed by an automatic genetic analyzer; the relative fragment's lengths of PCR products were calculated by gene scan analysis software and afterward genotyped by genotype software.</p><p><b>RESULTS</b>Fifteen STR loci of the 210 samples showed a successful result of genotyping. The heterozygosities of the fifteen STR loci in Chengdu Han population were found to be 0.529-0.881; the combined exclusion probability and discrimination power for the fifteen STR loci in Chengdu Han population were determined to be 0.999998 and 7.3 x 10 (-17); respectively.</p><p><b>CONCLUSION</b>The distinct genotype of fifteen STR loci and the sex of sample could be unveiled just through PCR and electrophoresis once, and a higher measured value could be obtained for both the combined discrimination power and the exclusion probability; the fifteen STR loci can meet the needs of the parentage testing and personal identification in forensic medicine.</p>

Analysis of polymorphic markers by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry / 中华医学遗传学杂志

With the development of genomics and the accomplishments of human genomic sequencing, polymorphic markers and their analytic approaches are more and more important, and much attention has been paid to the fact that the analysis of single nucleotide polymorphisms utilizing matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF MS) is a high-throughput approach. MALDI-TOF MS can also mini-sequence and genotype short tandem repeat. The approaches to analyzing single nucleotide polymorphisms are primer oligonucleotide base extension, ligase reaction, peptide nucleotide acid, invader assay, and so on.

Relationship between a novel polymorphism of lipoprotein lipase gene and coronary heart disease / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To investigate polymorphisms in the gene for lipoprotein lipase (LPL) in Chinese populations with coronary heart disease (CHD) and to inquire into the relationship between these polymorphisms in LPL gene and CHD.</p><p><b>METHODS</b>Genomic DNA was extracted from patients with CHD and normal control subjects using a salting out method. The entire coding region and flanking sequences of all coding exons of the LPL gene were amplified by PCR technique and PCR products were detected by denaturing high-performance liquid chromatography (DHPLC) and sequenced with a dideoxy terminal termination method.</p><p><b>RESULTS</b>A novel polymorphic site, G830A, that is within the fifth exon of the LPL gene was found. The 192 codon CGA was changed into CAA and resulted in the substitution of glutamine for arginine. Between the control and CHD groups, chi-square test showed no significant difference in the frequencies of the A/A genotype and A allele (P > 0.05). However, the frequencies of A/A genotype and A allele (0.653 and 0.786) in CHD patients with high plasma triglyceride/lowed plasma high density lipoprotein cholesterol were higher than those (0.415 and 0.642) in CHD patients without hyperlipidemia (P < 0.05).</p><p><b>CONCLUSION</b>No direct association was found between the LPL Arg192-->Gln substitution polymorphism and CHD, but there is a significant positive correlation between the A/A genotype of the LPL gene and CHD associated with high triglyceride/lowed high density lipoprotein cholesterol. This study may provide new data for exploring the molecular mechanism of CHD.</p>

Polymorphic markers of chromosome Y and their applications for forensic science / 中华医学遗传学杂志

Chromosome Y does not recombine with any other at meiosis except that on pseudoautosomal region. Polymorphic markers on the chromosome Y are paternal inheritance and are haploidly inherited. Variance of the sequences comes from accumulated mutation. These properties make them unique and important not only to anthroponomy and genetics but also to forensic science and medicine.

Relationship between HFE gene and hereditary hemochromatosis / 中华医学遗传学杂志

HFE gene is a major histocompatibility complex class I-like gene, which was identified as a candidate gene for hemochromatosis in 1996. The proposed role for HFE is its part in the regulation of the interaction of the transferrin receptor with transferrin. Hemochromatosis, the common autosomal recessive disease of iron overload, affects at least 1 in 300 Caucasians. The identification of the C282Y mutation in the HFE gene has led to population screening studies. Much of this work has also included the analysis of a second mutation, H63D, which appears to have a low penetrability. HFE protein was recently found to coprecipitate with the transferrin receptor and to affect the reaction between transferrin and the transferrin receptor. Functional data suggest that the mutation C282Y abolishes the association of the HFE protein with beta 2-microglobulin (beta 2M), making the complex unable to reach the cell surface. Clearly, if the mutation protein is unable to reach the cell surface, this regulatory feature is missing. The role of a second mutation in the HFE gene, H63D, is less clear. Current data suggest that this mutation protein can associate with beta 2-microglobulin and does reach the cell surface and that the defect lies in a failure to modify the affinity of the transferrin receptor for transferrin. This does not explain the low degree of penetrability associated with this mutation.

The relationship between physical distance and genetic distance on chromosome 22 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To construct a genetic map based on data from the Chinese population in northern part of China and to compare relationship between physical distance and genetic distance on chromosome 22.</p><p><b>METHODS</b>PCR amplification was employed to genotype 6 STR loci on chromosome 22, and pedigree analysis was performed.</p><p><b>RESULTS</b>A genetic map of Chinese Han population in the northern part of China was constructed and a preliminary comparison of the physical and genetic distances between 6 STR loci on chromosome 22 was made.</p><p><b>CONCLUSION</b>There is complex relationship between genetic distance and physical distance: the distance between STR loci is related to physical distance but also recombination fraction, and there are differences of the genetic and physical distances on chromosome 22 between Chinese and Caucasian, and between the male and female.</p>

Molecular genetics and clinical application of Rh blood group system / 中华医学遗传学杂志

The Rh blood group system is one of the most complex and important systems known in humans. It has two homologous structure genes in tandem on 1p34.3-36.1 that encode Rh protein. The Rh protein is a membrane in red blood cell that has 12 transmembrane spans. Rh antigens have many variants; there are three genetic polymorphisms in the RhD-negative individual. The Rh blood group system is of great significance in clinical transfusion and hemolytic disease of the newborn (HDN). Rh PCR genotyping is used for prenatal diagnosis in fetus, but still it has some defects, and in this connection further knowledge about Rh system will be necessary to solve the problem.

A study of forensic DNA databases / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>The forensic DNA databases are very important for individual identification. In order to evaluate the genetic markers used for a forensic DNA databases and the compatibility between the manual DNA typing system and the automatic DNA typing system, a testing DNA database should be constructed. Also, constructing a testing DNA database can increase our understanding of the issue for forensic DNA databases.</p><p><b>METHODS</b>A total of 1000 specimens, including samples of blood, blood stains, salvia stains, semen stains, mixture stains and muscle tissues, were collected from the public security bureau of Chengdu. The DNA of each specimen was extracted by Chelex method and analyzed using Amp-FLP technique. A total of 8 STR loci, including D3S1358, D9S1118, vWA, D5S818, D16S539, D8S1179, CSF1PO and D20S161 were chosen and employed for DNA typing. Each STR locus was amplified by the polymerase chain reaction PCR and the PCR products were typed with the polyacryamide gel electrophoresis. Typing DNA was carried out by comparing with a human allele ladder. A total of 8 human allele ladders for D3S1358, D9S1118, vWA, D5S818, D16S539, D8S1179, CSF1PO and D20S161 were made in-house. Managing software of the testing DNA database was designed using Microsoft Access.</p><p><b>RESULTS</b>The results of DNA typing in 1000 specimens showed that the total discrimination power of 8 STR loci was over 0.99999999.</p><p><b>CONCLUSION</b>This study show that a forensic DNA database should be useful for search purpose. The total discrimination power over 0.99999999 imply that in principle there is no identical genotype at whole 8 STR loci between two persons from a population with 10000000 individuals. This means that 8 STR loci used in this study are suitable to construct forensic DNA databases in Chengdu of China. The result of DNA typing can be repeated and the data have compatibility between the manual DNA typing system and the automatic DNA typing system. The data search in our testing DNA database can be carried out using only some loci of the set of 8 STR markers. Also, the volume of our testing DNA databases could be enlarged easily. The implication from this study is that the legislation should not be negligent before establishing a forensic DNA database. This DNA database provides a model for establishing the forensic DNA databases in China.</p>

Genetic polymorphisms, function and clinical effect of HLA-G / 中华医学遗传学杂志

HLA-G is a non-classical major histocompatibility complex class I molecule that differs from the classical HLA I class molecules by (1) a limited polymorphism, (2) a tissue-restricted distribution and (3) a transcription of spliced messenger RNAs encoding for at least four membrane-bound and two soluble HLA-G isoforms. Extensive studies over the past few years have identified HLA-G as a molecule involved in immune tolerance. In this review, attempts were made to summarize the current state of knowledge of the polymorphisms, expression, function, the effects of HLA-G on immuno-associated disease, evolution of HLA-G and its utility in disease therapy.

The calculation of PI value in case of paternity testing of alleged parents / 中国法医学杂志

Since the information supplied by the paternity testing of alleged parents was less than that of standard triplet parentage testing,so the paternity index (PI) calculating methods of standard triplet parentage testing was not suitable for calculating the PI value of alleged parents.In order to establish a more precise method for calculating PI value of alleged parents with STR typing results,the first thing is to summarize the standard triplet PI calculating formulas according to the Essen Mller theory.These formulas are 1/p,1/2p,1/p+q,1/2p+2q.This article reports a new PI calculating method in case of paternity testing of alleged parents.Compared with other methods,the new method for calculating Y value either considering random man and random female or considering the alleged father(mother)and random female(man).

PREPARATION AND IDENTIFICATION OF ANTI-GC SERUM / 中国法医学杂志

Anti-GC serum was successfully prepared in two New Zealand rabbits immunized with GC protein which was isolated and purified from GC2-2 serum previously in our laboratory. The results of identification showed that the specificity of the home made anti- GC serum and the commercial anti- GC serum (DAKOPATTS) were identical. The titer of the home made anti-GC serum was 128. Three common phenotypes, GC1-1, GC2-1 and GC2-2could be identified by immunoelectrophoresis with the home made anti-GC serum. The concentration of GC protein as low as 3.1 ?g/ml could be detected by double immunodiffusion. In addition the anti-GC serum does not cross react with other human serum proteins.

SIMULTANEOUS PHENOTYPING OF AHSG,PI AND GC WITH IEF AND PATERNITY TEST / 中国法医学杂志

Simultaneous phenotyping of AHSG, Pi and GC by IEF is reported. The results showed that the cumulative discrimination power and the cumulative exclusion probability of paternity of this method were 0.9701 and 0.58.11 respectively. It was proved to be the most efficient method for individual identification among the simultaneous phenotypings of genetic markers.It has been applied to paternity test and the results were satisfactory.

A STUDY OF G2M(N)FACTOR DISTRIBUTION IN HAN POPULATION IN CHENGDU / 中国法医学杂志

This paper reports the detection of G2m(n)factors in human sera using theenzyme-linked immunosorbent inhibition test with monoclonal antibodies agai-nst G2m(n)factor(SH-21).The gene freguency of G2m(n)factor among 517unrelated individuals of ban population in Chengeu area was 0.5493 and itsvariance was 0.0004.

Forensic application of D20S161 and D8S384 loci / 中国法医学杂志

To evaluate the forensic validation of D20S161 and D8S384 loci.Two typing kits for D20S161 and D8S384 had been home made.The samples had been analyzed by using both kits,which including human blood,human semen,human saliva,animal blood,mixture of human blood and animal blood;human bloodstain,human semen stain,human saliva stain,animal bloodstain, mixture stain of human blood and animal blood; old bloodstains.The sequences of primers for both loci had been compared with 606364 sequences in data base in GeneBank,USA.There are positive results for human blood,human semen,human saliva,mixture of human blood and animal blood by using both kits for D20S161 and D8S384 loci.But animal bloods have not any PCR-productyet.Genotyping of human bloodstain,human semen stain,human saliva stain,mixture stain of human blood and animal blood by using both kits for D20S161 and D8S384 loci were correct.But animal bloodstains had not any PCR productyet.Also, all of fifty old bloodstains had positive results of typing for D20S161 and D8S384.No product was obtained by PCR technigue when primers for both D20S161 and D8S384 loci were tested against 606364 known sequences in the data base in GeneBank.The results demonstrated that both loci have species specificity.Both D20S161 and D8S384 loci are useful marker for forensic casework and paternity analysis.

SIMULTANEOUS PHENOTYPING OF ORM, PI, AHSG AND GC IN HUMAN BLOODSTAINS USING PAGE IEF IMMUNOASSAY / 中国法医学杂志

A PAGE IEF immunoassay was established to detect the ORM, Pi, AHSG and GC phenotypes slmultaneously in human bloodstains. The cumulative discriminating power and probability of paternity exclusion were 0. 9878 and 0. 6648 respectively. Human sera diluted 100 times and bloodstains kept at room temperature for 4 weeks could be typed for these four blood groups correctly. The phenotypes of ORM, AHSG and GC could be determined correctly in bloodstains kept at room temperature within 24 weeks. This provides a good approach for individual identification of human bloodstains.

ISOLATION AND PURIFICATION DF Gc PROTEIN FROM HUMAN PLASMA / 中国法医学杂志

Group-specific component(Gc), one of the polymorphic proteins of human plasma,has been isolated and purified from human plasma of Gc 2-2 phenotype by a procedure including DEAE-Sephadex-A50,Sephadex G100 and DEAE-Sephadex-A50 chromatography. The purified Gc identified by PAGE,SDS-PAGE and immunoelectrophoresis was homogeneous and reacted specifically with the commercial anti-Gc serum (DAKO) kit. The molecular weight of the purified Gc was about 58 kd.