Low Frequencies of CCR5-Δ32 and CCR5-m303,but High Frequencies of CCR2-641 and SDF1-3'A Alleles in Indigenous Ethnic Groups in China's Mainland

Objective:The aim in this study was to identify the allelic frequencies of the chemokine (SDF1-3'A) and chemokine receptor (CCR5△32, CCR5m303 and CCR2-64I) genes resistant to HIV-1 infection and/or disease progression in indigenous Chinese populations. Methods: By using QIAamp DNA Blood Mini Kit, the genomic DNA samples were purified from whole peripheral blood of healthy individuals (n=2067) from Han, Uygur, Mongolian and Tibetan ethnic groups, as well as Han patients including HIV-1 carriers (n=330), patients with other sexually transmitted diseases (STDs, n=259) and intravenous drug users (IVDUs, n=125). The allelic polymorphisms were identified by means of PCR or PCR-RFLP analyses. The sequences of randomly selected amplified PCR products were further confirmed by direct DNA sequencing. Results: The mutant frequencies were identified to be 0%-3.48% for CCR5△32, 0% for CCR5m303,19.15%-28.79% for CCR2-64 and 19.10%-28.73% for SDF1-3'A alleles, respectively, in Chinese healthy individuals from four ethnic groups. Our findings indicated the allelic frequencies vary among the different ethnic groups. Furthermore, the HIV-1 carriers, STD cases and IVDUs (all of Han ethnicity) were found to have the allelic frequencies of 0%-0.19% (CCR5A32), 0% (CCR5m303), 19.31%-20.45% (CCR2-64) and 25.61%-26.83% (SDF1-3'A) with minor variations in their frequencies between the patients and healthy Han groups. There was no CCR5-m303 mutation found in any subject in this study. Conclusion: The examined subjects of four Chinese ethnic origins showed lower frequencies of CCR5A32 and CCR5m303 alleles, but higher frequencies of mutant CCR264I and SDF1-3'A alleles compared to those identified in northern-European and American Caucasians. The significance of the different frequencies and polymorphisms of the above alleles in Chinese populations needs to be further examined in HIV-1/AIDS diseases.

Human leukocyte antigen class-Ⅱ DRB1 alleles and Giardia lamblia infection in children: A case-control study

Objective:To compare the genotype frequencies of HLA class-ⅡDRB1 alleles in Giardia(G.)lamblia-infected children.Methods:A total of 490 Egyptian children aged 2-16 years were subjected to microscopic stool examination to detect G.lamblia infection,and to exclude other intestinal pathogens.On the basis of their microscopic findings,a group of 80 children were chosen as giardiasis cases,another 80 children were confirmed as Giardia free control group by immunochromatographic test,and the remaining children were excluded.Both giardiasis and control groups were then subjected to blood examination to identify their genetic type of HLA-DRB1 alleles.Results:HLA class-ⅡDRB1*03:01 and DRB1*13:01 alleles were significantly associated with G.lamblia infection(P<0.001 for each variable).On the other hand,HLA class-ⅡDRB1*04:02,DRB1*10:01,DRB1*14:01 and DRB1*15:01 alleles were significantly demonstrated in Giardia free children.However,other HLA-DRB1 alleles did not show any significant association with giardiasis.Conclusions:HLA class-ⅡDRB1*03,DRB1*13,DRB1*04,DRB1*10,DRB1*14 and DRB1*15 alleles may be involved in the establishment of host immune response to G.lamblia infection.

C3 PHENOTYPE AND ALLELES，C3 HAV4－1 MONOCLONAL PHENOTYPE DISTRIBUTION IN HYPERTENSIVE PATIENTS WITH IgA GLOMERULONEPHRITIS

Ｃ３ＰＨＥＮＯＴＹＰＥＡＮＤＡＬＬＥＬＥＳ，Ｃ３ＨＡＶ４－１ＭＯＮＯＣＬＯＮＡＬ ＰＨＥＮＯＴＹＰＥＤＩＳＴＲＩＢＵＴＩＯＮＩＮＨＹＰＥＲＴＥＮＳＩＶＥＰＡＴＩＥＮＴＳＷＩＴＨＩｇＡＧＬＯＭＥＲＵＬＯＮＥＰＨＲＩＴＩＳＧｕｏＪｉｚｈｅｎ（郭冀珍）（Ｓ...

中国南方汉族人群HLA-DPA1、-DPB1及-DQA1基因多态性的研究

目的调查中国南方汉族人群HLA-DPA1、-DPB1和-DQA1等位基因多态性。方法 2017年6月-12月应用PCR-SBT测序分型法对1 000名健康无血缘关系的南方汉族人群外周血样(于2016年8月-2017年5月收集)进行HLA-DPA1、-DPB1和-DQA1基因测序分型。HLA-DPA1和-DPB1基因采用自行设计的引物同步扩增检测第2、3外显子,HLA-DQA1检测第1~4外显子。电泳序列导入uTYPE 7.2 HLA分析软件判定基因型。采用直接计数法计算等位基因的分布频率。结果在1 000人份南方汉族无关个体HLA-DPA1、-DPB1和-DQA1测序分型所获的序列中,无背景信号和杂峰。共检出6种HLA-DPA1等位基因,频率由高到低依次为DPA1~*02∶02 (0.541)>DPA1~*01∶03 (0.340)>DPA1~*02∶01 (0.095)>DPA1~*04∶01 (0.021)>DPA1~*02∶07 (0.003)>DPA1~*01∶04 (0.002);共检出HLA-DPB1等位基因33种,频率较高的前4种等位基因依次为DPB1~*05∶01(0.401)、DPB1~*02∶01(0.165)、DPB1~*04∶01(0.085)、DPB1~*02∶02(0.071);共检出19种HLA-DQA1等位基因,频率较高的前4种等位基因依次为DQA1~*01∶02(0.196)、DQA1~*03∶02(0.144)、DQA1~*01∶03(0.087)和DQA1~*06∶01(0.085)。结论本文获得了南方汉族人群HLA-DPA1、-DPB1和-DQA1基因多态性数据,可为人类学、群体遗传学、疾病关联研究等提供重要参考数据。

成都地区妊娠肝内胆汁淤积症家庭HLA-DPA1基因多态性研究

目的 探讨妊娠肝内胆汁淤积症 ( ICP)与人类白细胞抗原 DPA1区域 ( HL A- DPA1)等位基因多态性的关系。方法 采用多聚酶链反应 -序列特异性引物 ( PCR- SSP)法研究成都地区 2 5个 ICP家庭 (包括孕妇、配偶及胎儿 ,ICP组 )和 2 5个正常家庭 (对照组 )的 HL A- DPA1基因座的多态性。结果 ICP组孕妇、夫妇及母儿的HL A- DPA1各等位基因频率与对照组相比差异无显著性 ;两组夫妇及母儿 HL A- DPA1等位基因共享的比较亦无显著性差异 ;ICP患者与正常孕妇 HL A- DPA1位点纯、杂合型基因型频率的比较差异亦无统计学意义。结论 HL A- DPA1各等位基因在确定成都地区

实验用荣昌猪SLA-1等位基因鉴定及分子遗传特征分析

旨在明确实验用荣昌猪SLA遗传背景,深入研究SLA-1分子相关的抗原递呈和免疫应答机制,本研究对27头荣昌猪采集抗凝血,分离外周血淋巴细胞,提取总RNA,设计特异性引物对SLA-1基因进行RT-PCR扩增、克隆和测序,对获得序列的分子特征进行分析。结果显示,荣昌猪中共获得11个SLA-1等位基因,其中,9个为新等位基因,全部获得GenBank登录号和ISAG SLA命名委员会官方命名,SLA-1^(*)24:01等位基因在该群体中频率最高。SLA-1基因编码区全长1086 bp,存在127个核苷酸多态位点,非同义单核苷酸多态性位点数高于同义单核苷酸多态性位点数。核苷酸多样度为0.0449,单倍型多样度为1,平均核苷酸差异数为48.782,G+C含量为64.9%。SLA-1基因编码的361个氨基酸中,有75个氨基酸变异位点;第2和第3外显子编码区多态性最高,且第2外显子区域的氨基酸变异程度高于第3外显子区,组成抗原肽结合槽6个口袋的33个关键氨基酸位点中,11个在人与荣昌猪之间高度保守,与β2-微球蛋白结合的19个关键氨基酸位点中,10个保持一致,CD8分子与MHC结合的关键氨基酸位点中,只有225(Thr/Ser)和228(Thr/Met)位点不同。同源性和系统进化树分析表明,SLA-1^(*)10:03和SLA-1^(*)18:03分别与人HLA-A^(*)02:01和HLA-A^(*)11:01等位基因的同源性最高,荣昌猪与亚洲野猪、巴马小型猪和融水小型猪等亚洲猪种具有较近的亲缘关系。本研究成功获得了中国地方猪种荣昌猪SLA-1基因,发现其具有极为丰富的多态性,为揭示荣昌猪的SLA遗传背景和开展异种移植研究奠定了遗传学基础。

Two novel gene-specific markers at the Pik locus facilitate the application of rice blast resistant alleles in breeding

Blast,a disease caused by Magnaporthe oryzae,is a major constraint for rice production worldwide.Introgression of durable blast resistance genes into high-yielding rice cultivars has been considered a priority to control the disease.The blast resistance Pik locus,located on chromosome 11,contains at least six important resistance genes,but these genes have not been widely employed in resistance breeding since existing markers hardly satisfy current breeding needs due to their limited scope of application.In this study,two PCR-based markers,Pikp-Del and Pi1-In,were developed to target the specific In Del(insertion/deletion)of the Pik-p and Pi-1 genes,respectively.The two markers precisely distinguished Pik-p,Pi-1,and the K-type alleles at the Pik locus,which is a necessary element for functional genes from rice varieties.Results also revealed that only several old varieties contain the two genes,of which nearly half carry the K-type alleles.Therefore,these identified varieties can serve as new gene sources for developing blast resistant rice.The two newly developed markers will be highly useful for the use of Pik-p,Pi-1 and other resistance genes at the Pik locus in markerassisted selection(MAS)breeding programs.

HLA class Ⅱ alleles and risk for peripheral neuropathy in type 2 diabetes patients

The potential impact of human leukocyte antigen （HLA） genotype variations on development of diabetic peripheral neuropathy （DPN） is not well determined. This study aimed to identify the association of HLA class II alleles with DPN in type 2 diabetes （T2D） patients. Totally 106 T2D patients, 49 with DPN and 57 without DPN, and 100 ethnic-matched healthy controls were analyzed. Both groups of the patients were matched based on sex, age, body mass index （BMI） and duration of T2D. Polyneuropathy was diagnosed using electrodiagnostic methods. HLA-DRB1 and DQB1 genotyping was performed in all subjects by the polymerase chain reaction with sequence-specific primers （PCR-SSP） method. T2D patients with DPN showed higher frequencies of HLA-DRB1＊10 and DRB1＊12 alleles compared to control group （P = 0.04）. HLA-DQB1＊02 allele and HLA-DRB1＊07-DQB1＊02 haplotype were associated with a decreased risk for developing DPN in T2D patients （P = 0.02 and P = 0.05 respectively）. Also, patients with severe neuropathy showed higher frequencies of DRB1＊07 （P = 0.003） and DQB1＊02 （P = 0.02） alleles than those with mild-to-moderate form of neuropathy. The distribution of DRB 1 and DQB 1 alleles and haplotypes were not statistically different between all patients and healthy controls. Our findings implicate a possible protective role of HLA-DQB1＊02 allele and HLA-DRB1＊07-DQB1＊02 haplotype against development of peripheral neuropathy in T2D patients. Therefore, variations in HLA genotypes might be used as genetic markers for prediction and potentially management of neuropathy in T2D patients.

The allelic distribution and variation analysis of the NAM-B1 gene in Chinese wheat cultivars

The NAM-B1 gene is a member of the NAC（NAM,ATAF,and CUC）transcription factor family and plays an important role in regulating wheat grain protein content（GPC）.The ancestral NAM-B1 allele has been discovered in many tetraploid wild emmer（Triticum turgidum ssp.dicoccoides）accessions and few domesticated emmer accessions（T.turgidum ssp.dicoccum）,however,it is rarely found in hexaploid bread wheat（Triticum aestivum L.）.There are no systematic reports on the distribution of NAM-B1 alleles in Chinese wheat cultivars.In this study,the NAM-B1 alleles in 218 Chinese cultivars were investigated.The cultivars were collected from five major wheat regions（12 provinces）,covering most of the winter wheat growing regions in China.The results showed that the NAM-B1 gene is present in 53（24.3%）cultivars and absent in the remaining 165（75.7%）cultivars.Further analysis revealed that in contrast to the wild-type allele,the NAM-B1 gene in Chinese wheat cultivars contained a 1-bp insertion in the coding region.This caused a frame-shift mutation and introduced a stop codon in the middle of the gene,rendering it non-functional.Polymorphisms were detected in DNA sequences of 21cultivars among these 53 cultivars.However,cD NA sequence analysis suggested that these variations in the exon region were not able to restore NAM-B1 gene（1-bp insertion）function.Thus,exploring the distribution of NAM-B1 gene variations（1-bp insertion and deletion）can provide some information for improving the quality of winter wheat in China and other countries.

Identification and Genetic Analysis of a Novel Allelic Variation of Brittle-1 with Endosperm Mutant in Maize

Endosperm mutants are critical to the studies on both starch synthesis and metabolism and genetic improvement of starch quality in maize.In the present study,a novel maize endosperm mutant A0178 of natural variation was used as the experimental material and identified and then characterized.Through phenotypic identification,genetic analysis,main ingredients measurement and embryo rescue,development of genetic mapping population from A0178,the endosperm mutant gene was located.The results showed that the mutant exhibited extremely low germination ability as attributed to the inhibited embryo development,and amounts of sugars were accumulated in the mutant seeds and more sugars content was detected at 23 days after pollination(DAP)in A0178 than B73.Employing genetic linkage analysis,the mutant trait was mapped in the bin 5.04 on chromosome 5.Sequence analysis showed that two sites of base transversion and insertion presented in the protein coding region and non-coding region of the mutant brittle-1(bt1),the adenylate translocator encoding gene involved in the starch synthesis.The single base insertion in the coding region cause frameshift mutation,early termination and lose of function of Brittle-1(BT1).All results suggested that bt1 is a novel allelic gene and the causal gene of this endosperm mutant,providing insights on the mechanism of endosperm formation in maize.

Characterization of a Novel Weak Allele of RGA1/D1 and Its Potential Application in Rice Breeding

Semi-dwarfing improves the lodging resistance and yield of rice,and the vast majority of modern rice varieties harbor the sd1 allele to decrease plant height,resulting in reduced genetic diversity and negative agronomic traits.Thus,exploring alternative sources of dwarfism is imperative for rice breeding.Here,we identified a novel RGA1 allele,d1-w,from a local indica variety Xiaolixiang(XLX)using a map-based cloning approach.Compared with other rice varieties,RGA1 in XLX contained a unique single nucleotide polymorphism that resulted in an additional transcript and reduced functional RGA1 transcript level.The RGA1 from Nipponbare was introduced into XLX to estimate the value of d1-w in rice breeding.Compared with transgenic XLX plants(XLX^(D1)),XLX exhibited reduced plant height,increased stem strength,lower reactive oxygen species accumulation,delayed senescence,stronger photosynthesis,higher grain yield and quality(including external,milling and nutritional qualities),and enhanced resistance to drought and Rhizoctonia solani.Therefore,we proposed that the d1-w allele has potential as an excellent dwarfism resource for rice breeding.

Haplotype Diversity at Sub1 Locus and Allelic Distribution Among Rice Varieties of Tide and Flood Prone Areas of South-East Asia

Single nucleotide polymorphisms and restriction digestion-based haplotype variations among 160 flood prone rice varieties were analyzed with enzymes Alu I and Cac8 I to generate polymorphisms at Sub1A and Sub1C loci （conferring submergence tolerance）, respectively. Haplotype associated with phenotype was used to study the haplotype variations at Sub1A and Sub1C loci and to determine their functional influence on submergence tolerance and stem elongation. Three patterns at Sub1A locus, Sub1A0 （null allele）, Sub1A1 （does not cut） and Sub1A2 （one SNP）, and four patterns at Sub1C locus, Sub1C1, Sub1C2, Sub1C3 and Sub1C4, were generated. Both tolerant Sub1A1 and intolerant Sub1A2 had the same length, but the difference was presence of a restriction site in the Sub1A2, but absent at the Sub1A1. Further, two types of polymorphism were detected at the Sub1C, one included major length polymorphisms （165, 170 and 175 bp） and the other was a single restriction site at different position. Eight haplotypes （different combinations of the two loci）, A1C1, A1C2, A1C4, A2C2, A2C4, A0C2, A0C3 and A0C4, were detected among 160 varieties. Haplotype A1C1 was comparatively more related to haplotypes A1C2 and A1C4, having the same Sub1A allele, and these haplotypes were found only in Bangladeshi, Sri Lankan and Indian varieties. Most tolerant varieties in A1C1 haplotype showed slow elongation, having tolerant specific Sub1A1 and Sub1C1 alleles. Further, the varieties Madabaru and Kottamali （A2C2） also showed moderate level of tolerance without Sub1A1 allele. These varieties were different with FR13A and also suspected to carry different novel tolerant genes at other loci. These materials could be used for hybridization with Sub1 varieties for pyramiding additional tolerant specific alleles into a single genotype for improving submergence tolerance in rice.

Characterization of CCR5Δ32、CCR2b-641、CX3CR1-2491280M and SDF1-3'A Allelic Polymorphisms in the Chinese Uygur Population

Objective:Allelic polymorphisms of CCR5△32、CCR2b-64I,CX3CR1-249I280M and SDF1-3’A associated with HIV-1 infection and disease progression were investigated in indigenous Uygur populations from the Xinjiang Uygur Autonomous Region of China.Mithods:The study population comprised 316 healthy Uygur subjects with an age range of 1-80 years old,from whom whole peripheral blood samples were collected and none were HIV-1 seropositive.Genomic DNA samples were purified using a Qiagen Blood Kit.Genotyping of the aforementioned four alleles was performed using PCR or PCR/RFLP assay,and further confirmed by direct DNA sequencing.Results:The allelic frequencies in Chinese Uygur population were as follows:3.48% for CCR5△32;19.45% for CCR2b-64I;13.8% for CX3CRI-249I280M haplotype,and 20.41% for SDFI-3’A.Mutant allele distributions among Uygur populations were in accordance with the Hardy-Weinberg equilibrium.No statistical difference was found between the frequency of the three HIV coreceptors and their respective ligand genes.Conclusion:The frequency of SDF1-3’A and CX3CR1-249I280M haplotype more closely matched the han Chinese.The fequency of CCR5△32 in Uygur populations was between Caucasian and Han frequencies,the more closely matching the frequency in Medi-Asia people.No genetic linkage between any two of the three HIV coreceptor genes was found,but obvious genetic linkages existed between CX3CR1-249I and CX3CR1-280M,with even higher linkage degrees than Caucasian people.

组织相容性复合体-DMA、DMB基因与1型糖尿病遗传易感相关性的研究

目的 对组织相容性复合体非经典基因 DMA、DMB与 1型糖尿病的易感相关性进行研究。 方法 以 80例 1型糖尿病患者为实验组 ,以 91名健康成年献血员为正常对照组。用酚 氯仿 乙醇沉淀法提取基因组DNA ,然后采用聚合酶链反应和斑点杂交技术对DMA、DMB基因进行分型。 结果 DMA 0 10 3和DMB 0 10 3基因在患者中的频率显著增高 ,DMA 0 10 2和DMB 0 10 1基因在对照组中的频率显著增高。DMA 0 10 1 0 10 2和DMB 0 10 1 0 10 1基因型在对照组中的频率显著增高 (分别为 42 %vs10 .8%;46 %vs7.1%,P <0 .0 1) ,DMB 0 10 3 0 10 3和DMA 0 10 1 0 10 3基因型在患者中的频率显著增高。DMA 0 10 2 DMB 0 10 1二聚体在对照组中的频率显著高于患者组 ( 2 8.6 %vs4.4%,P <0 .0 1) ,DMA 0 10 3 DMB 0 10 2、DMA 0 10 3 DMB 0 10 3和DMA 0 10 3 DMB 0 10 1二聚体在患者中的频率显著增高。 结论 DMA 0 10 3和DMB 0 10 3基因与中国人 1型糖尿病的易感性相关 ,DMA 0 10 2和DMB 0 10 1则与中国人 1型糖尿病的保护性相关。DMB 0 10 3 0 10 3和DMA 0 10 1 0 10 3基因型对 1型糖尿病构成易感性 ,DMA 0 10 1 0 10 2和DMB 0 10 1 0 10 1基因型则对 1型糖尿病构成保护性。DMA 0 10 3 DMB 0 10 2。

环氧化酶和血红素氧合酶1基因多态性与阿司匹林抵抗关系的研究

目的探讨环氧化酶1(COX-1)、COX 2和血红素氧合酶1(HO-1)的基因多态性与阿司匹林抵抗(AR)的相关性。方法选择431例老年汉族心脑血管病患者,持续服用(75～100 mg)阿司匹林≥1个月,通过花生四烯酸诱导光比浊法联合二磷酸腺苷诱导光比浊法,筛查出AR患者(AR组)36例,阿司匹林半抵抗患者(semi-AR组)164例和阿司匹林不抵抗患者(non-AR组)231例。并对COX-1 rs1888943、rs1330344、rs3842787、rs5787、rs5789和rs5794,COX-2 rs20417和rs5277,HO-1 rs2071746共9个单核苷酸多态性位点的相关性进行比较。结果与non-AR组和semi-AR组比较,AR组COX-1 rs1330344(1 676A/G)突变的G等位基因增加了发病风险(OR=1.77,95%CI:1.07～2.92,P=0.02)和(OR=1.66,95%CI:0.99～2.77,P=0.05)。HO-1 rs2071746(-413 A>T)突变T等位基因同样增加了发病风险(OR=1.70,95%CI:1.02～2.79,P=0.04)和(OR=1.68,95%CI:1.00～2.80,P=0.05)。结论 COX-1 rs1330344和HO-1 rs2071746与老年汉族人群AR相关,COX-1 rs1888943、rs3842787、rs5787、rs5789、rs5794和COX-2 rs20417、rs5277与AR不相关,在汉族人群中罕见出现。

辽宁丹东间日疟原虫裂殖子表面蛋白1等位基因型分析

用套式PCR方法扩增辽宁丹东地区间日疟原虫裂殖子表面蛋白1(MSP-1)基因ICB5-ICB6片段,经PvuⅡ酶切和琼脂糖凝胶电泳,对产物进行序列分析。结果显示,11份镜检确诊的间日疟患者血液标本经套式PCR扩增均出现大小约为470 bp(Sal-1型)或400 bp(Belem型)的特异性片段。经PvuⅡ内切酶消化后,其中5份血样(470 bp),出现120和350 bp酶切片段,为Sal-1型;其余6份血样(400 bp)中,1份出现400 bp片段,为Belem型,1份出现120和280 bp两种酶切片段,为重组Ⅲ型,4份出现120和240 bp两种酶切片段,为朝鲜型。辽宁省丹东地区的间日疟原虫PvMSP-1基因存在3种不同的等位基因型,以Sal-1型和朝鲜型为主,但无不同等位基因型的混合感染。

中国人群HLA-B等位基因与HIV-1感染者疾病进程相关性研究

目的：通过对中国人群HIV-1感染典型进展者（Typical progressors，TP）和长期不进展者（Long-term nonpmgressors，LTNP）HLA-B等位基因的分布频率的研究，探讨中国人群HLA-B等位基因与HIV-1感染者疾病进程的关系。方法：采用整群随机抽样方法从河南、吉林、辽宁、新疆、云南五省收集356例未经抗病毒治疗的HIV-1感染者血样，其中289例典型进展者和67例长期不进展者。应用聚合酶链反应-序列特异性引物技术（PCR-SSP）对其HLA-B等位基因特异性进行检测，并分析了他们的等位基因纯合子情况及Bw4／Bw6血清型，比较二组差异。结果：发现4个HLA-B等位基因位点在中国HIV-1感染人群中的表达频率较高，分别是HLA-B^＊13（TP：11．8％；LTNP：15．7％）、HLA-B^＊15（TP：17．3％；LTNP：8．2％）、HLA-B^＊40（TP：12．5％；LTNP：17．9％）、HIA-B^＊51（TP：9％；LTNP：10．4％）。其中长期不进展组HLA-B^＊67的等位基因频率为4．5％，典型进展组HLA-B^＊67的等位基因频率为1．2％，前者明显高于后者，具有显著性差异（P=0．022，OR=0．26，95％CI=0．08-0．89）。典型进展组的B^＊15的等位基因频率（17．3％）显著高于长期不进展组（8．2％）（P=0．009，OR=2．34，95％CI=1．18～4．76）。结论：HLA-B^＊67等位基因可能与延缓中国HIV-1感染者疾病进程相关，HLA-B^＊15等位基因可能与加速中国HIV-1感染者疾病进程相关。

白细胞介素-1家族细胞因子等位基因对相关细胞因子的产生及全身感染预后的影响

目的 探讨白细胞介素-1(IL- 1)家族细胞因子基因多态性中等位基因对细胞因子m RNA表达、蛋白质合成以及全身感染预后的影响。方法 选择全身感染患者及健康志愿者各6 0例。分离健康志愿者外周血单核细胞,体外培养并给予脂多糖(L PS)刺激,采用半定量逆转录聚合酶链反应(RT- PCR)分析细胞因子IL -1α、IL -1β、IL 1ra m RNA表达,酶联免疫吸附法(EL- ISA)检测细胞因子浓度。盐析法提取所有受试者基因组DNA,行IL- 1A(内合子6 ,VNTR) ,IL- 1B(5 11,RFL P)及IL- 1RN (内合子2 ,VNTR)基因多态性分析。结果 与健康志愿者比较,全身感染患者中等位基因IL -1RN2携带者显著增多,而IL- 1A2、IL -1B2及IL 1RN2携带者病死率增加。体外研究表明,等位基因IL RN2较IL 1RN 1携带者外周血单核细胞在受L PS刺激时细胞因子IL- 1ra分泌及m RNA表达显著增加,而IL- 1A、IL- 1B各等位基因不影响相应细胞因子表达。结论 遗传因素可能是导致全身感染患者发生不同程度炎症反应的重要原因。等位基因IL- 1RN2通过上调细胞因子IL- 1ra表达,影响全身感染患者预后,可能是全身感染的高危遗传学标志。

云南省恶性疟原虫裂殖子表面蛋白1基因分型及测序

目的：确定云南省恶性疟原虫裂殖子表面蛋白１（ Ｍ Ｓ Ｐ １）基因分型和探讨 Ｍ Ｓ Ｐ １ 基因多态性的遗传及地理特征。方法：采用巢式 Ｐ Ｃ Ｒ法和引物标记周期反应测定法，对云南疫区恶性疟原虫群体 Ｍ Ｓ Ｐ１ 基因分型，并对代表株进行基因序列分析。结果：３０ 例云南恶性疟患者，检出３８ 个基因型虫株，其中 Ｍ Ａ Ｄ２０ 型是优势虫株， Ｋ１ 次之， Ｒ Ｏ３３ 最少，并存在不同基因株混合感染现象。扩增片段序列分析表明，云南疫区的 Ｍ Ａ Ｄ２０ 型、 Ｋ１ 型和 Ｒ Ｏ３３型均分别与国际上典型的 Ｍ Ｓ Ｐ１、 Ｍ Ａ Ｄ ２０、 Ｋ１ 和 Ｒ Ｏ ３３ 等位基因代表株具有高度的同源性。结论：以 Ｍ Ｓ Ｐ１ 为基因标记物的基因分型法，有助于掌握流行区疟原虫种群的基因特点、分布及流行特征。