Analysis of factors influencing elevated blood pressure and overweight/obesity and their comorbidities among Tibetan middle school students in Lhasa City / 中国学校卫生

Objective@#To explore the prevalence of elevated blood pressure and overweight/obesity and their comorbidities among Tibetan middle school students in Lhasa, and to analyze their association with lifestyle and other factors, so as to provide a basis for the intervention measures targeting elevated blood pressure, overweight and obesity among middle school students in high altitude area.@*Methods@#Using a stratified cluster random sampling method in September 2021, a total of 1 488 Tibetan junior and high students from Lhasa City were investigated with blood pressure measurement, physical examination and questionnaire survey. The influencing factors of elevated blood pressure, overweight and obesity and their comorbidities association were analyzed by multivariate Logistic regression.@*Results@#The prevalence of elevated blood pressure, overweight/obesity and their comorbidities were 17.8%, 17.4% , 5.0% respectively. Multivariate Logistic regression analysis showed that age( OR =0.81), residence, body mass inex(BMI) and gender were the influencing factors of elevated blood pressure; and the risks of elevated blood pressure in female students were higher than male students ( OR =1.89), suburban students were higher than urban students ( OR =8.06), overweight and obesity groups were higher than normal groups ( OR =2.55, 2.87) ( P <0.05). Adjusting for confounding factors such as gender, residence and school, and BMI (only for elevated blood pressure), daily screen time ≥2 h was positively correlated with elevated blood pressure, overweight/obesity and its comorbidities ( OR =1.56, 1.59 , 2.51) ( P <0.05).@*Conclusions@#The prevalence of elevated blood pressure, overweight/obesity are relatively high in Lhasa. Longer screen time is a common factor affecting with elevated blood pressure, overweight/obesity and comorbidities among Tibetan students. Measures should be taken intervene in the lifestyle of Tibetan students, in order to reduce elevated blood pressure and overweight/obesity.

Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17 / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis.@*METHODS@#Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.

Prenatal diagnosis for two fetuses carrying partial deletion of Y chromosome / 中华医学遗传学杂志

OBJECTIVE@#To perform prenatal diagosis for two fetuses carrying partial deletion of Y chromosome.@*METHODS@#Routine G- and C-banding were carried out to analyze the chromosomal karyotypes of the fetuses and their fathers. Fetal DNA was also subjected to low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), SRY gene and AZF factor testing.@*RESULTS@#Both fetuses showed a 46, XN, del(Y) (q11.2) karyotype at 320-400 band level by the analysis of amniotic fluid chromosomes. FISH with Y chromosome centromere probe indicated that in both cases the number of Y chromosome was normal. Both fathers had an apparently normal karyotype at 320-400 band level. For fetus 1, CNV-seq test revealed a 12.88 Mb deletion at Yq11.221-q12, which encompassed the whole of AZFb+AZFc regions and may lead to male infertility, sperm deficiency and/or severe oligospermia. In fetus 2, CNV-seq also detected a 14.84 Mb deletion at Yq11.21-q12, which encompassed the whole of the AZF region and may lead to severe spermatogenesis disorder resulting in severe oligoasthenospermia and azoospermia. In both cases, testing of SRY gene was positive. No point mutation of the SRY gene was identified. Analysis of amniotic fluid DNA confirmed partial or total absence of AZF in the two fetuses, respectively.@*CONCLUSION@#Combined use of various technologies can enable accurate detection of structural abnormalities of the Y chromosome and facilitate genetic counseling. CNV-seq can help with rapid screening of Y chromosome microdeletions and may be used as a complementary test for chromosomal karyotyping.

Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志

Objective@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*Methods@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*Results@#A homozygous missense variant c. 6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*Conclusion@#The c. 6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.

Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志

OBJECTIVE@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*METHODS@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*RESULTS@#A homozygous missense variant c.6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*CONCLUSION@#The c.6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.

Genetic diagnosis and noninvasive prenatal testing of a family with Williams-Beuren syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a fetus with ventricular septal defect (VSD) by using modified noninvasive prenatal testing (NIPT) for the detection of microdeletion syndromes.@*METHODS@#Chromosomal karyotypes of the fetus and its parents were analyzed by G-banding technique. Next generation sequencing (NGS) was used to detect genomic copy number variations (CNVs) in cell-free fetal DNA. The results were verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype at 320-400 band level. NGS revealed a deletion of 1.30 Mb at 7q11.23 in the fetus, with a 93% overlap with that of Williams-Beuren syndrome (WBS). The father also had a deletion of 1.42 Mb at 7q11.23, with a 99% overlap with that of WBS. Modified NIPT also detected the 1.30 Mb deletion at 7q11.23 in the fetus. The result of FISH has confirmed the above results.@*CONCLUSION@#It is necessary to carry out genetic testing on fetuses with VSD. NGS can detect fetal microdeletion syndromes and help to trace their parental origin. The modified NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate.

Genetic diagnosis and non-invasive prenatal testing of a fetus with Prader-Willi/Angelman syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions.@*METHODS@#Next-generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G-banding was used to analyze the karyotypes of the fetus and its parents. High-throughput sequencing was used to analyze free fetal DNA.@*RESULTS@#NGS analysis has revealed a 4.88 Mb deletion at 15q11.2-q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader-Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands.@*CONCLUSION@#It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader-Willi/Angelman syndrome.

In accordance with national standards for the training of nursing personnel in the western region / 中国实用护理杂志

The National Standards for the Quality of Nursing Teaching is the core outline for deepening the teaching reform of undergraduate nursing majors in higher education and improving the quality of nursing professionals. Since its establishment, Lanzhou University School of Nursing has been confronted with educational difficulties, overcome difficulties and promote professional development, continued to develop in the western region, and conducted research and study in a characteristic way. Our school conscientiously and strictly follow the standard, constantly clarify the objectives of the school, improve managerial condition, enhance the level of professional connotation construction, formed a "core competencies" oriented training mode, continued the development of "high standard, with characteristic" the road. Our school unifies the standard to make up the gap insufficient, and prepare for greeting the nursing profession certification work carefully.

Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志

Objective@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*Methods@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*Results@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*Conclusion@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.

Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*METHODS@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*RESULTS@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*CONCLUSION@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.

In accordance with national standards for the training of nursing personnel in the western region / 中国实用护理杂志

The National Standards for the Quality of Nursing Teaching is the core outline for deepening the teaching reform of undergraduate nursing majors in higher education and improving the quality of nursing professionals. Since its establishment, Lanzhou University School of Nursing has been confronted with educational difficulties, overcome difficulties and promote professional development, continued to develop in the western region, and conducted research and study in a characteristic way. Our school conscientiously and strictly follow the standard, constantly clarify the objectives of the school, improve managerial condition, enhance the level of professional connotation construction, formed a "core competencies" oriented training mode, continued the development of "high standard, with characteristic"the road. Our school unifies the standard to make up the gap insufficient, and prepare for greeting the nursing profession certification work carefully.

Analysis of genomic copy number variations in 36 fetuses with heart malformations using next-generation sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the implications of copy number variations (CNVs) for congenital heart diseases (CHD) in fetuses.</p><p><b>METHODS</b>G-banding karyotype analysis and next-generation sequencing (NGS) technology were performed on cord blood samples derived from 36 fetuses with CHD. Pathological implication of the CNVs was explored through comparison against the International Genomic Polymorphism Database (http://www.ebi.ac.uk/dgva/), Phenotype Database (http://decipher.sanger.ac.uk/), and the Human Genome Database at UCSC (http://genome.ucsc.edu/cgi-bin/hgGateway).</p><p><b>RESULTS</b>G-banding karyotype analysis has identified 7 chromosomal abnormalities. For the remaining 28 cases, NGS has identified 4 microdeletions and microduplications, which involved chromosomes 2, 13, 14, 16 and 22. The largest involved a 6.8 Mb microdeletion, while the smallest involved a 280 kb microduplication. The chromosomal breakpoints in 1 case were delineated. One case of Noonan syndrome and one case of 22q11.2 deletion were diagnosed.</p><p><b>CONCLUSION</b>NGS can accurately determine the origins of derivative chromosomes and facilitate identification of pathogenic CNVs/genes. It can serve as a useful complement for conventional G-banding and reduce the recurrence risk.</p>

Genetic diagnosis and follow up of a fetus with Emanuel syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To carry out genetic analysis for a fetus with Dandy-Walker malformation and provide prenatal diagnosis for its parents during the subsequent pregnancy.</p><p><b>METHODS</b>Routine G-banding was carried out to analyze the karyotype of the fetus and its parents, and next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH) were used to verify the result.</p><p><b>RESULTS</b>The father showed a normal karyotype, while the mother was found to carry a balanced t(11; 22) (q23; q11) translocation. NGS and FISH analysis verified that the supernumerary marker chromosome carried by the fetus was der(22) t(11; 22) (q23;q11). The fetus was diagnosed with Emanuel syndrome. During the next pregnancy, the fetus was found to carry the same balanced translocation as its mother. After genetic counseling, the couple decided to continue with the pregnancy, and eventually delivered a healthy baby.</p><p><b>CONCLUSION</b>A fetal case of Emanuel syndrome has been identified. The derivative der(22) t(11; 22)(q23; q11) chromosome probably underlies the Dandy-Walker malformation in the fetus. Combined cytogenetic and molecular analyses can attain a more precise diagnosis for fetal abnormalities detected by ultrasonography.</p>

Expression of MEK/ERK signal pathways in renal cell carcinoma with bone metasta-sis / 北京大学学报(医学版)

Objective:To investigate the expression of MEK/ERK signaling pathways in renal cell car-cinoma with bone metastasis,and to analyze the differences of expressions of VEGFR-2,MEK,ERK on the primary and metastasis tissue and its mechanism.Methods:The tissue samples were obtained from 7 renal cell carcinoma patients kindly provided by Department of Urology,Peking University People’s Hos-pital from January 1,2009 to January 1,2010.The expression of MEK/ERK signaling pathways was de-tected in the 7 renal cell carcinoma patients`primary and matched metastatic tissues with ICH,The anti-body concentrations were 1 ∶200,1 ∶25,and 1 ∶250,respectively.The mutation of the twentieth exon of the PDGFRA gene,the second exon of the K-ras gene,the fifteenth exon of the Brafgene and the se-cond exon of the MEK1 gene were detected with PCR.Results:The expression intensities of VEGFR-2, MEK,and ERK were measured by H-score [intensity (1,2,3,or 4)multiplied by the distribution (%)].VEGFR-2,MEK,and ERK expressions were divided into 3 groups according to the positive dis-tribution of the tumor cells:1,0 -5%;2,6% -50%;and 3,>50%,To assess intratumor heteroge-neity,three distinct microscopic fields (×200)from each specimen were used to evaluate the expres-sions,Subsequently,the scores were averaged to obtain a single concatenated score for each tissue. VEGFR-2,MEK,and ERK expressions were assessed by 2 independent pathologists who were blinded to the clinicopathological data.The data were expressed as the mean value of the triplicate experiments.The expressions of MEK,and ERK were higher in the metastatic tissues than in the matched RCC tissues (6.10 ±4.10 vs.1.33 ±0.51,P =0.015;9.10 ±2.24 vs.4.43 ±2.84,P =0.021 )while the ex-pression of VEGFR-2 was not different between the primary and metastatic tissues (P =0.901).No mu-tation was detected on the twentieth exon of the PDGFRA gene,the second exon of the K-ras gene,the fifteenth exon of the Brafgene and the second exon of the MEK1 gene.Conclusion:MEK/ERK signa-ling pathways may play an important role in the metastasis and the resistance of sunitinib in RCC patients with bone metastasis.

Clinical study of one-stage lymphatics-venous anastomosis to prevent upper extremity lymphedema of breast cancer after radical resection / 国际肿瘤学杂志

Objective To investigate the value of one-stage lymphatics-venous anastomosis in radical mastectomy of breast cancer to prevent post-mastectomy upper limb lymphedema.Methods Ninety patients requiring radical mastectomy of breast cancer in Tangshan Tumor Hospital Affiliated to North China University of Science and Technology from March 2010 to May 2013 were collected as the objects.They were divided into the control group (45 cases) and the treatment group (45 cases) using block randomized grouping (concealment of allocation).Both groups underwent radical mastectomy of breast cancer, and the treatment group was treated with one-stage lymphatics-venous anastomosis on the basis of radical mastectomy.The operation times, amount of bleeding, hospitalization times, postoperative complications and the numbers of axillary lymph node dissection of the patients in the two groups were compared, and the postoperative upper limb lymphedema incidence rates of the patients in the two groups were compared.Results The operative times of the patients in the treatment group and the control group were (152.82 ± 18.76) min and (78.92 ± 10.33) min respectively, and amount of bleeding were (416.64 ± 94.65) ml and (250.84 ± 63.17) ml, with statistical significances (t =-20.39, P =0.00;t =-4.48, P =0.00).The average hospitalization times of the patients in the treatment group and the control group were (14.91 ± 5.44) d and (13.45 ± 2.36) d respectively, the numbers of axillary lymph node dissection were 14.63 ± 3.37 and 14.37 ± 3.18, the numbers of postoperative complications occurred were 9 cases (20.00％) and 5 cases (11.11％), with no statistical significances (t =-0.47, P =0.64;t =0.75, P =0.46;x2 =1.35, P =0.38).Compared with the control group, the treatment group has lower incidence of upper extremity lymphedema (13.95％ vs.40.91％) and lower swelling degree, with statistical significance (x2 =8.48, P =0.03).Conclusion One-stage lymphatics-venous anastomosis in radical masteetomy of breast cancer can effectively transfer lymph diversion to the venous circulation and reduce the incidence of limb lymphedema, which has significant preventive effect.

Study on the number alteration of endothelial progenitor cells from peripheral blood in patients with acute myocardial infarction of young man / 中国医师杂志

Objective To compare the number of endothelial progenitor cells (EPCs) from peripheral blood in patients with acute myocardial infarction of young man and healthy man.Methods Eighteen young men (18 ～50 years old) with acute myocardial infarction (AMI) who were admitted at the First Affiliated Hospital of Dalian Medical University from June 2010 to April 2011 in young man were enrolled,aged (65 ～ 85 years old) men with acute myocardial infarction in 18 cases,within 24 hours of onset collected blood 2 ml.Ten cases of healthy young men (30 ～50 years old) were used as control group,fasting venous blood 2 ml.A volume (400 μl) of blood was taken to red blood cell lysis buffer hemolysis labeled with vascular endothelial growth factor (VEGF),CD34,and CD133 antibodies,and then analyzed with flow cytometry.Results The number of EPCs in peripheral blood was measured in young male AMI group.The number of EPCs in peripheral blood was (0.58 ±0.83)％ in older men.The number of EPCs in peripheral blood of AMI group was (0.04 ± 0.03) ％.For healthy controls,the number of EPCs was (0.02 ± 0.02)％.The number of EPCs was significantly higher in AMI patients compared to control group (P ＜ 0.05).However,for AMI group,the increased number of EPCs in young men was significantly greater than young female (P ＜0.01).Conclusions The number of EPCs in peripheral blood in young man AMI patients is significantly increased within 24 hours.

Effect of Acupuncture, Neuromuscular Electrical Stimulation and Swallowing Training on Acute Stroke Patients with Dysphagia and Incidence of Post-stroke Pneumonia / 中国康复理论与实践

@#Objective To observe the effect of acupuncture, neuromuscular electrical stimulation and swallowing training on acute stroke patients with dysphagia and the incidence of post-stroke pneumonia (PSP). Methods Acute stroke patients with dysphagia were divided into 3 groups. Routine group (n=188) received routine swallowing training. Stimulation group (n=196) received routine swallowing training and neuromuscular electrical stimulation. Acupuncture group (n=112) received routine swallowing training, neuromuscular electrical stimulation, and acupuncture. The incidence of improvment of dysphagia and PSP, and the improvement of National Institutes of Health Stroke Scale (NIHSS) within 3 weeks were compared. They were followed up for 3 months for the incidence of PSP. Results The incidence of improvment of dysphagia was the most in the acupuncture group (P<0.05), while the incidence of PSP was the least (P<0.05). The improvement of NIHSS was the most in the acupuncture group (P<0.05). The incidence of PSP was not significantly different (P>0.05) within 3 months followed up. Conclusion The acupuncture, neuromuscular electrical stimulation and swallowing training combination can improve the swallowing function and decrease the incidence of PSP in stroke patients with dysphagia.

Expression of Bcl-x and Its Clinical Significance in Endometrial Cancer / 中国肿瘤临床

Objective: To investigate the roles of Bcl-xl and Bcl-xs in the development and progression of endometrial carcinoma, and to explore their correlation.Methods: The expression of Bcl-xl and Bcl-xs in 32 cases of endometrial carci-noma, 12 cases of endometrial atypical hyperplasia, 6 cases of endometrial simple hyperplasia and 10 cases of normal en-dometrial tissues were examined by RT-PCR and Western-blot.Results: The expression of Bcl-xl mRNA and protein was significantly higher in endometrial cancer tissues than in normal endometrial tissues (P<0.05), and was statistically associat-ed with the pathological stage of endometrial carcinoma.(F=5.33, P=0.02).The expression of Bcl-xs mRNA and protein in atypical endometrial hyperplasia and endometrial carcinoma tissues were significantlly lower than that in normal endometri-al tissues (P<0.05), which was also associated with clinical stage and lymph node metastasis of endometrial carcinoma (P<0.05).The expression of Bcl-xl was negatively correlated with the expression of Bcl-xs in different endometrial tissues (r=-0.76).Conclusion: The abnormal expression of Bcl-xs and Bcl-xl was a factor for the pathogenesis and development of endometrial carcinoma.The negative correlation between Bcl-xl and Bcl-xs in different endometrial tissues as well as their relative expression ratio may have certain impact on the genesis of endornetrial cancer.

A randomized clinical trial of intrauterine device MYCu / 中华全科医师杂志

Objective To observe safety and efficacy of intrauterine device MYCu IUD that releases indomethacin. Methods In total, 2000 women requiring IUD for contraception were chosen from domestic multiple clinical centers according to an unified standard. MYCu IUD and TCu380A IUD were randomly inserted for 1000 women each, respectively. All women were regularly followed-up one, three, six and 12 months after insertion. Results All the women were followed-up for 11 985.9 and 11 753.6 person-months in MYCu IUD and TCu380A IUD groups, respectively, with cumulative IUD application rates of 97. 80% and 94. 70%, and cumulative pregnancy rates with IUD of 0. 10% and 0. 31%, respectively. Cumulative expulsion (or partial expulsion) rate in MYCu IUD group was 0. 10%, significantly lower than that in TCu380A IUD one (1.73%), P ＜0. 01, and cumulative removal rate due to medical reasons (bleeding or pain) was 1.51 % and 2. 94%, respectively, P ＜ 0. 05. Rate of IUD-associated termination and overall rate of termination differed significantly between the two groups, P ＜0. 01. Adverse reactions one, three, six and twelve months after IUD insertion included irregular bleeding, prolonged menstruation, increased menstrual blood volume and pain, less in indomethacin-containing MYCu IUD group than those in TCu380A IUD without containing it, P ＜ 0. 01. Conclusions MYCu IUD is a comparatively ideal IUD that should be promoted for extensive use, with extremely low expulsion rate, good contraceptive effect, convenience and safety in insertion and removal, and less adverse effects.

Correlation between killer cell immunoglobulin-like receptors genes and pre-eclampsia / 中华妇产科杂志

objective To analyze the killer cell immunoglobulin-like receptors(KIR)gene polymorphism of pre-eclampsia patients and approach the correlation between KIR genes and pre-eclampsia.Methods The KIR gene polymorphisms of 71 pre-eclampsia patients and 100 healthy pregnant women were detected by PCR-SSP.The KIR2DL4 mRNA level in placentas from pre-eclampsia and gestational normal pregnancies were quantified by real time RT-PCR.Forty pre-eclampsia patients and 38 healthy pregnant women were detected for single nucleotide polymorphisms(SNP)in the gene coding and joint areas between introns and extrons by directly sequencing techniques of KIR2DL4 genomic DNA.Finally,all alleles and genotypes of KIR2DL4 gene were case-control studied.Result Distributions of some relatively activating KIR genotypes shewed a significant association with pre-eclampsia.Real-time RT-PCR showed that KIR2DL4 mRNA can be measured both in placenta of women with pre-eclampsia being of pre-eclampsia waft significantly lower than that of normal pregnancy.only as much as 0.276 times that of controls.We identified 18 polymorphisms,of which,7 were first reported.But no significant differences in genotype distributions or allele frequencies were observed in these SNPs between cases and controls.Conclusion The distributions of some relatively activating KIR genotypes showed a significant association with pre-eclampsia,which indicates that the polymorphism of KIR genes may be associated with the genetic predisposition to pre-eclampsia.And because the expression of KIR2DL4 mRNA in the placentas of cases wag significantly lower than control group,it is speculated that the decrease of KIR2DL4 expression in placenta may participate in the pathogenesis of pre-eclampsia.