目的 分析ABCB1基因G2677T、C3435T位点在我国汉族血脂异常人群的分布特征;探讨ABCB1基因G2677T和C3435T多态性与阿托伐他汀降脂疗效之间的关系。方法 依据中国成人血脂异常防治指南判断标准,在中国汉族人群中收集205例受试者,抽取其外周血液样本,利用聚合酶链式反应-限制性片段长度多态分析(PCR-RFLP)技术对受试者ABCB1进行基因分型,同时在阿托伐他汀治疗3个月前后检测总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)血脂水平,将205例患者治疗后4项指标恢复正常分为A组,治疗后4项指标仍有一项及一项以上异常分为B组,来分析G2677T和C3435T基因多态性与阿托伐他汀降脂疗效的关系,以及G2677T和C3435T等位基因的分布特征。结果 205例患者中G2677T位点GG型、GT型、TT型基因频率分别为19.51%、42.44%、38.05%;C3435T位点CC型、CT型、TT型基因频率分别为34.63%、49.76%、15.61%。G2677T位点A组与B组等位基因突变率为58.46%与60.67%,A组GG型、GT型、TT型基因频率分别为23.08%、36.92%、40.00%,B组GG型、GT型、TT型基因频率分别为13.33%、52.00%、34.67%;C3435T位点A组与B组等位基因突变率为40.77%和40.00%,A组CC型、CT型、TT型基因频率分别为34.62%、 49.23%、16.15%,B组CC型、CT型、TT型基因频率分别为34.67%、50.67%、14.66%;ABCB1 基因G2677T、C3435T位点基因型在A组和B组中分布相同,无差异(P＞0.05)。205例患者中,用药前ABCB1基因G2677T位点TT型血浆TC、LDL-C水平高于GT型(P＜0.05)。用药后ABCB1基因G2677T位点GT型血浆TC、HDL-C、LDL-C水平低于GG型与TT型(P＜0.05);用药后ABCB1基因C3435T位点TT型血浆TC水平低于CC与CT型(P＜0.05),而CC型血浆LDL-C水平高于TT型(P＜0.05)。结论 ABCB1基因G2677T、C3435T位点多态性与血浆血脂水平有关,但ABCB1基因G2677T、C3435T位点多态性可能与阿托伐他汀3个月降脂疗效无关。

目的 探讨分析莫西沙星对2型糖尿病合并肺部感染患者内皮素及降钙素基因相关肽的影响。方法 回顾性分析2015年1月—2016年1月来我院就诊并确诊为2型糖尿病合并肺部感染的84例患者的临床资料,根据治疗方案将其分为对照组和观察组,每组各42例。对照组患者给予常规治疗,观察组患者在对照组的治疗基础上予以莫西沙星治疗。观察两组患者治疗后内皮素以及降钙素基因相关肽的变化。结果 ①观察组总有效率(92.86%)优于对照组(78.57%),两组患者间总有效率的比较有统计学意义(P<0.05);②两组患者治疗前ET、CGRP水平无差异(P>0.05)。治疗后,观察组ET水平低于对照组,CGRP水平高于对照组(P<0.05)。结论 临床应用莫西沙星治疗2型糖尿病合并肺部感染具有明显的临床疗效,值得临床推广应用。

目的 探讨中国人群中不同Rh血型表型的RHAG基因序列。方法 用血清学方法检测20例中国人群中不同Rh血型表型[包括了15例Rh(D)阳性样本和5例Rh(D)阴性样本,Rh(D)阳性样本中包含5例RhCcEe抗原弱表达、5例弱D和5例正常Rh(D)阳性样本],依据RHAG基因序列的特异性,设计10对特异性引物扩增20例样本的RHAG基因第1~10外显子,确认条带符合后送公司纯化并测序。结果 20例不同Rh血型表型的样本在统一PCR条件下均扩出RHAG基因1～10外显子,扩增产物测序结果与标准序列对比一致。结论 了解中国人群中RHAG基因的多态性需观察更多有意义的样本。

Objective To explore the RHAG gene sequence of different Rh phenotypes in Chinese population. Methods We detected different Rh phenotypes in 20 cases of Chinese population using serological tests including 15 cases of Rh (D) positive samples and 5 cases of Rh (D) negative samples. Rh (D) positive samples included 5 cases of RhCcEe antigen weak expression, 5 cases of weak D and 5 cases of normal Rh (D) positive samples. According to specific RHAG gene sequence, 10 pairs of specific primers were designed to amplify 10 exon sequences of RHAG gene. Amplification products confirmed by electrophoresis, then the PCR products were purified and sequencing in a company. Results The exon 1~10 of RHAG gene in 20 cases of Chinese population coding region was sequenced, and the results were consistent with the sequence of GenBank standard. Conclusion More significant samples should be observed to study polymorphism of RHAG gene in Chinese population.

目的 探讨载脂蛋白E基因多态性在COPD患者合并AD中的意义。方法 通过病例资料进行回顾性研究,收集慢性阻塞性肺疾病70例,阿尔茨海默病81例,健康对照人群566例,进行统计分析。结果 “AD组”和“COPD合并AD组”的LDL水平高于“COPD未合并AD组”;“COPD组”的ApoE水平高于“AD组”,且在“COPD组”中,未合并AD者的ApoE水平明显高于合并AD者;“COPD组”的ε3/ε4基因型均少于“AD组”,且“COPD未合并AD组”的ε3/ε4基因型明显少于“COPD合并AD组”;“AD组”及“COPD合并AD组”的ε4等位基因频率多于“COPD组”及“COPD未合并AD组”;“COPD合并AD组”的ε3/ε3基因型少于“健康对照组”,而ε2/ε4基因型则多于“健康对照组”;“COPD组”的ε3/ε4基因型多于“健康体检组”;“COPD合并AD组”的ε3/ε4基因型多于“健康体检组”;“COPD合并AD组”的ε4等位基因频率高于“健康对照组”。结论 ApoE基因多态性不但参与COPD患者认知功能受损甚至合并AD,而且可能通过影响脂质代谢,参与COPD的发生发展;ApoE的ε4等位基因可能是COPD和AD患病的共同危险因素。

目的 探讨广东汉族儿童ACE2基因A9570G多态性与儿童激素敏感型肾病综合征(SSNS)复发的关系。方法 选取广东汉族SSNS患儿92例,按发病后1年复发情况分为频复发组31例、非频复发组61例,健康体检者60例为对照组,采用聚合酶链反应-DNA直接测序技术观察患儿与对照组ACE2基因A9570G基因型分布和等位基因频率。结果 在女性,SSNS组G等位基因频率及GG基因型分布均低于对照组(39％ vs 65％,P<0.05;27％ vs 50％,P<0.05);在男性,SSNS组G等位基因/GG基因型分布亦低于对照组(35％ vs 60％,P<0.05 )。亚组分析发现,在女性,频复发组G 等位基因频率及GG 基因型分布均高于非频复发组(58％ vs 29％,P<0.05;42％ vs 19％,P<0.05);在男性,频复发G基因型/G等位基因频率高于非频复发(58％ vs 24％,P<0.05)。结论 ACE2基因A9570G多态性与儿童SSNS复发相关,携带G等位基因的患儿容易表现为频复发。

Objective To investigate the association between the A9570G polymorphism of ACE2 gene and the relapse of steroid-sensitive nephrotic syndrome (SSNS) in Han childhood of Guangdong.Methods Ninety-two children with SSNS were selected from Guangdong Han nationality. According to the relapse frequency during the first year of the disease, 31 cases with more than 3 relapses were as frequency relapse group, 61 cases with less than 3 relapses were as non-frequent relapse group, and 60 healthy children were as control group. The gene distribution and allele frequency of ACE2 gene A9570G were observed by polymerase chain reaction-DNA direct sequencing technology.Results In female,the distribution of G allele frequency and GG genotype in SSNS group were significantly lower than that in the control group(39％ vs 65％, P<0.05; 27％ vs 50％, P<0.05). In male, the distribution of G allele/GG genotype in SSNS group was also significantly lower than that in the control group(35% vs 60%, P<0.05). Subgroup analysis found that the distribution of G allele frequency and GG genotype in female of the frequency relapse group were significantly higher than that of the non-frequency relapse group(58% vs 29%, P<0.05; 42% vs 19%, P<0.05), and the distribution of G allele/GG genotype in male of the frequency relapse group was significantly higher than that of the non-frequency relapse group (58% vs 24%, P<0.05).Conclusion The A9570G polymorphism of ACE2 gene was associated with the recurrence of children's SSNS, and the children with G allele were susceptible to recurrence.

目的 探讨HHIP基因单核苷酸多态性与新疆蒙古族慢性阻塞性肺疾病易感性之间的关系。方法 以259例蒙古族吸烟慢性阻塞性肺疾病患者为病例组,245例蒙古族吸烟健康体检者为对照组,提取外周血标本 DNA,运用Taqman分型技术检测HHIP基因rs13118928、rs13141461位点多态性。结果 HHIP基因rs13118928、rs13141461位点基因型与等位基因在病例组和对照组之间的频率分布,结果显示差异有统计学意义(P<0.05)。rs13118928位点基因型AG、GG,等位基因G在病例组与对照组分布差异有统计学意义(P<0.001),且OR<1,可能降低发生COPD的风险。rs13141461位点基因型TC在病例组与对照组分布差异无统计学意义(P>0.05),rs13141461位点基因型CC, 等位基因C在病例组与对照组分布差异有统计学意义(P<0.05),且OR>1,可能增加发生慢阻肺的风险。rs13118928、rs13141461位点基因型与肺功能 FEV1%预计值比较差异有统计学意义(P<0.05)。结论 HHIP基rs13118928、rs13141461位点多态性可能与新疆蒙古族人群慢阻肺的发生有关。

Objective To explore the relationship between HHIP gene single nucleotide polymorphism and the susceptibility of Mongolian chronic obstructive pulmonary disease.Methods DNAs were extracted from the peripheral blood of 259 patients with COPD (case group) and 245 healthy controls (control group) from Xinjiang Mongolian population. Polymorphisms of HHIP rs13118928 and rs13141461 were determined by the Taqman PCR method.Results The frequency of HHIP rs13118928 and rs13141461 genotypes and alleles in the case group and the control group showed significant difference (P<0.05). HHIP rs13118928 genotype, AG, GG and allele G were significantly different between case group and control group (P<0.001), and OR<1. It could reduce the risk of COPD. There was no significant difference in HHIP rs13141461 genotype TC between the case group and the control group (P>0.05). HHIP rs13141461 genotype CC and allele C were significantly different between the case group and the control group (P<0.05), and OR>1. It may increase the risk of COPD. The difference of HHIP rs13118928, rs13141461 and FEV1% predicted value was statistically significant(P<0.05).Conclusion The polymorphism of HHIP rs13118928 and rs13141461 may be related to the occurrence of COPD in Xinjiang Mongolian population.

目的 分析KRAS基因突变在左半结肠、右半结肠癌分布几率的差异性。方法 回顾性分析我院病理科分子实验室2015年到2017年间接收的537例结肠癌手术标本,用ARMS-PCR法进行了KRAS基因的检测,并对左右半结肠腺癌KRAS基因突变比例进行χ²检验,P＜0.05为差异有统计学意义。结果 537例中有187(34.82%)例为右半结肠腺癌,左半结肠腺癌有350(65.18%)例。KRAS基因突变检测阳性例数为240例,阳性率为44.69%;右半结肠腺癌KRAS基因突变阳性数为114例,阳性率为60.96%;左半结肠癌KRAS基因突变阳性数为126例,阳性率为36.00%。双侧结肠腺癌KRAS基因突变差异有统计学意义。结论 右半结肠癌的患病例数低于左半结肠癌,右半结肠癌KRAS基因突变阳性率较左半结肠癌高,本研究为区分左右半结肠癌的分子靶向治疗提供了数据支持。

Objective To analyze the differences distribution of KRAS gene mutations in the left hemi colon cancer and right hemi colon cancer. Methods Retrospectively to analyse the 537 colorectal cancer patients who were received by our molecular laboratory of pathology from 2015 to 2017, ARMS-PCR method was used to detect the KRAS gene. The ratio of KRAS gene mutation in left and right hemi colon cancer was tested by χ² test, P<0.05 was considered statistically significant. Results There were 187(34.82%) patients with right hemi colon cancer; and there were 350 (65.18%)patients with left half hemi colon cancer. The KRAS positive patients were 240 cases, which were 44.69% in total. The positive patients with right hemi colon cancer were 114 cases which had a higher rate of 60.96%, the left hemi colon cancer patients were 126 cases with a lower rate of 36.00%. Conclusion The number of right hemi colon cancer was lower than the number of left hemi colon cancer. And the KRAS gene mutation in right hemi colon cancer had more positive than left hemi colon cancer. This study provides a number aid for treating right and left colon cancer in the subsequent molecular targeted drug therapy.

目的 探讨MDS、MDS/AML及原发AML基因突变频谱的异同点及其临床意义。方法 选取98例MDS患者、32例MDS/AML患者及234例原发AML患者为研究对象,利用二代测序技术检测基因突变。结果 MDS组中突变率较高的基因突变为TET2(16.7%,16/96)、U2AF1(12.0%,6/50)、SF3B1(11.8%,9/76);MDS/AML组中突变率较高的基因突变为TP53(33.3%,2/6)、DNMT3A(30%,6/20)、IDH2(21.1%,4/19);原发AML组中突变率较高的基因突变为FLT3-ITD(18.0%,42/233)、NPM1(16.3%,38/233)、DNMT3A(14.9%,14/94)。DNMT3A(P=0.006)、IDH2(P=0.004)及NPM1(P=0.002)等基因突变在MDS与MDS/AML两组间的突变率有统计学差异;FLT3-ITD(P=0.001)、NPM1(P=0.002)、CEBPA(P=0.011)及IDH2(P=0.019)等基因突变在MDS与原发AML两组间的突变率有统计学差异;所有受检基因突变在MDS/AML与原发AML两组间的基因突变的突变率无统计学差异(P＞0.05)。结论 MDS、MDS/AML及原发AML基因突变的突变频谱具有相似性及异质性,从MDS到MDS/AML、原发AML基因突变的变化不仅影响疾病转归及预后而且可帮助鉴别MDS/AML和原发AML。

Objective To explore the similarities and differences of spectrum of gene mutations in patients with myelodysplastic syndrome, MDS/AML and de novo acute myeloid leukemia and their clinical significance. Methods 98 patients with MDS, 32 patients with MDS/AML, 234 patients with de novo AML were selected. Gene mutations were detected by second generation sequencing. Results The most frequent mutations in MDS were as follows:TET2(16.7%, 16/96), U2AF1(12.0%, 6/50), SF3B1(11.8%, 9/76); The most frequent mutations in MDS/AML were TP53(33.3%, 2/6), DNMT3A(30%, 6/20), IDH2 (21.1%, 4/19);The most frequent mutations in de novo AML were FLT3-ITD(18.0%, 42/233), NPM1(16.3%, 38/233), DNMT3A(14.9%, 14/94); DNMT3A(P=0.006),IDH2(P=0.004) and NPM1(P=0.002) were statistical difference between MDS and MDS/AML; FLT3-ITD(P=0.001),NPM1(P=0.002),CEBPA(P=0.011) and IDH2(P=0.019) were statistical difference between MDS and de novo AML;There were no siatistical significance (P>0.05) in the frequency of all detected gene mutations between MDS/AML and AML. Conclusion The spectrum of gene mutation of MDS, MDS/AML and primary AML have similarities and heterogeneity.The changes of gene mutations from MDS to MDS/AML and de novo AML not only affect disease outcome and prognosis, but also help to identify MDS/AML and de novo AML.

目的 通过对未进行过商业基因检测(NCGT)社区居民和直接面向消费者的基因测试(DCGT)消费群体的调查,分析市场基因测试产品的消费构成和消费者社会特征与基因检测消费的相关因素。方法 采用分层随机抽样方法对广州市居民和直接面向消费者的基因检测非患者居民进行面访式调查,采用Logistics回归分析商业基因测试的相关社会学因素。结果 NCGT社区居民中其家庭成员进行过胎儿产前筛查基因检测的比例(26.3%)较高、DCGT人群因常规健康体检包含基因检测项目而进行基因测试的比例(44.8%)最高,儿童天赋基因的测试比例(23.3%)也相对较高,两个群体均认为基因检测的目的主要是预防疾病,信任的检测机构为医院。DCGT行为相关的社会学特征有婚姻(已婚vs未婚:OR=5.591,P<0.001)、学历(专科以上vs专科及以下:OR=0.071,P<0.001)、年龄(30～49岁组vs其他组:OR=0.223,P<0.001)、工作(全职vs其他:OR=4.660,P<0.001)、公费医疗(OR=1.183,P=0.021)和商业保险(OR=2.121,P=0.004)。结论 公众将基因测试看成是预防疾病和控制遗传性疾病的公共卫生手段,需要在医院将基因检测和个性化治疗对应起来。

Objective By investigating consumer groups that have no-commercial genetic testing (NCGT) community residents and direct-to-consumers genetic testing (DCGT), to analysze the consumer composition of market genetic testing products and the factors related to consumer social characteristics. Methods A stratified random sampling method was used to conduct a face-to-face survey of residents and non-patients of genetic testing in Guangzhou residents. The logistic regression analysis was used to analyze the sociological factors of commercial genetic testing. Results The proportion of children in the NCGT community who had prenatal screening for prenatal screening (26.3%) was higher, and the proportion of DCGT populations that were genetically tested for routine health checkups containing genetic testing (44.8%) was the highest. The proportion of test genes (23.3%) is also relatively high. Both groups believe that the purpose of genetic testing is mainly to prevent diseases, and the testing institutions for their trust are hospitals. The sociological characteristics associated with DCGT behavior are marriage (married vs unmarried: OR=5.591, P<0.001), education (specialist vs. specialist and below: OR=0.071, P<0.001), age (30~49 years vs others, OR=0.223, P<0.001), work (full-time vs other: OR=4.660, P<0.001), public medical care (OR=1.183, P=0.021) and commercial insurance (OR=2.121, P=0.004). Conclusion The public regards genetic testing as a public health tool for preventing diseases and controlling hereditary diseases, and it is necessary to correlate genetic testing with personalized treatment in hospitals.

目的 分析无创产前基因检测(NIPT)在胎儿染色体非整倍体疾病诊断中的检出效率及临床应用价值。方法 选取2016年4月—2018年3月在我院接受无创产前基因检测的3 759例孕妇作为研究对象,利用二代测序AR550平台结合生物信息学进行无创产前基因检测,NIPT 的检测范围包括21、18、13 及性染色体非整倍体。对 NIPT 高风险的孕妇,建议行羊水或脐血穿刺染色体核型分析,比较两者结果的一致性,并随访妊娠结局。结果 3759例孕妇中NIPT提示高风险27例,阳性率为0.71%。其中24例孕妇行染色体核型分析,确诊为 21-三体14例、18-三体1例、13-三体1例和性染色体数目异常4例,阳性预测值分别为100%、50%、100%和66.7%。其中NT增厚中无创孕妇99例,检出高风险为5例,检出率为5.05%（5/99）,明显高于总体检出率。结论 NIPT 对 21-三体和 18-三体具有较高的敏感性和特异性,能提高产前筛查和诊断效率,具有较好的临床应用价值.

Objective To analyze the efficiency and clinical value of noninvasive prenatal gene test (NIPT) in the diagnosis of fetal chromosomal aneuploidy. Methods From April 2016 to March 2018, 3 759 pregnant women who underwent noninvasive prenatal gene testing in our hospital were selected as subjects. The second generation sequencing AR550 platform combined with bioinformatics was used for noninvasive prenatal gene testing. The NIPT detection ranged from 21, 18, 13 to sex chromosome aneuploidy. For pregnant women at high risk of NIPT, amniotic fluid or umbilical cord blood puncture karyotype analysis was recommended to compare the consistency of the two results, and follow-up pregnancy outcomes. Results Among 3 759 pregnant women, NIPT showed 27 cases of high risk, with a positive rate of 0.71%. Twenty-four pregnant women were diagnosed as 21-trisomy in 14 cases, 18-trisomy in 1 case, 13-trisomy in 1 case and abnormal sex chromosome number in 4 cases. The positive predictive values were 100%, 50%, 100% and 66.7% respectively. Among them, 99 cases were non-invasive pregnant women with NT thickening, and 5 cases were at high risk of detection. The detection rate was 5.05% (5/99), which was higher than the overall detection rate. Conclusion NIPT has high sensitivity and specificity to 21-trisomy and 18-trisomy, can improve the efficiency of prenatal screening and diagnosis, and has good clinical application value.