Thymidylate Synthase 5’ UTR Polymorphic Allele Distribution in South Florida Population

Thymidylate synthase (TS;TYMS) is a pivotal enzyme in the DNA synthesis pathway. The 5’UTR of TYMS gene has a polymorphic 28 bp segment. Presence of two or three repeats of this unique 28 bp sequence is common. A distinct population distribution pattern for this polymorphic trait among different racial groups had been reported. We analyzed TYMS genotype in the peripheral blood mononucleocytes (PBMC) of 74 individuals in the South Florida region of the United States of America. The number of 28 bp repeats in the 5’ UTR was determined by PCR followed by agarose gel electrophoresis. The distribution of the three different genotypes was found to be 35.1% for 2R/2R, 39.2% for 2R/3R and 24.3% for 3R/3R. One individual was detected with 3R/4R genotype. Functional analyses associated homozygous for three repeats (3R/3R) to higher TYMS expression and therefore poor prognosis to chemotherapy. The other possible genotypes viz 2R/2R or 2R/3R is proposed to have better prognosis. However, there are reports that challenge this observation.

MITOCHONDRIAL DNA POLYMORPHISM IN CONTROL REGION FROM CHINESE YUGU POPULATION

Objective To investigate the mitochondrial DN A sequence polymorphism sites in Chinese YUGU ethnic group and to provide basic da ta used in forensic purpose. Methods Genomic DNA was extracted from the hole blood of 100 unrelated individuals of Chinese YUGU ethnic group by standard chelex-100 method. The sequence polymorphism sites was determined by PCR amplification and direct sequencing. Results 54 polymorphic sites were noted in mtDNA np16091-16418 region, and 46 haplotypes were identifi ed. The genetic diversity was calculated to be 0.9691, and the genetic identity was calculated to be 0.0406. Conclusion There are some particul ar polymorphism sites in Chinese YUGU ethnic group. The results suggest that seq uence polymorphism from np16091-16418 in human mitochondrial DNA can be used as a biological marker for forensic identity.

Association Analysis between a Polymorphism in the 5' Regulatory Region of the IL-6 Gene and Litter Size in Pigs

The aim of this study was to determine the effects of an IL-6 gene polymorphism, discovered in the 5＇ regulatory region, on porcine litter size. An association analysis was performed between the polymorphism and total number born （TNB） and number born alive （NBA） in 421 sows. The polymorphism was at Hpy188I within the 5＇ regulatory region of IL- 6 gene. Three genotypes of AA, AG, and GG were detected in Landrace, and two genotypes, AA and AG, were detected in Yorkshire and Duroc pigs. The A allele was the superior allele in all three breeds, with allele frequencies ranging from 0. 901 to 0.993. The IL-6 genotype was highly significantly associated with TNB and NBA in the third and following parities （ P 〈 0.01 ）, and with total parities （ P 〈 0.05）. In general, the TNB and NBA showed a tendency of GG 〉 AG 〉 AA, indicating that the common allele was the least favorable for litter size. Thus, there is an enormous opportunity to increase litter size if this effect is confirmed in other studies.

16-23S rRNA Spacer Region Polymorphism in Gangetic River Water Isolates of Salmonella

Salmonella is one of the major pathogenic bacteria present in contaminated water. 16-23S rRNA spacer region has been reported to be polymorphic at serovar level in Salmonella. Salmonella isolates obtained from Ganges river water were studied for 16-23S rRNA spacer region polymorphism. Thirty three isolates belonging to eight serovars (S. Typhimurium, S. Abuja, S. Pantypridd, S. Lagos, S. Chinkual, S. Zwickau, S. Goldenberg and S. Oritamerin) were studied for the polymorphism. Out of 33 isolates, 15 different profiles were observed no serovar specific profile. Our findings indicate that 16-23S rRNA spacer region is not specific at serovar level, but can be used for differentiation of different Salmonella isolates.

Polymorphism in the upstream regulatory region of human papilloma virus type 16 from the cervical cancer biopsies in Xinjiang Uygur women

To investigate the mutations in the upstream regulatory region (URR) of human papillomavirus type 16 (HPV-16) from the cervical cancer biopsies in Xinjiang Uygur women and its relationship to the high incidence of cervical cancer in the southern Xinjiang, the tissue DNA was extracted from the cervical cancer biopsies, and the URR segment of HPV-16 DNA was amplified, sequenced and analyzed. Thereafter, the polymorphism of URR in HPV-16 was then analyzed. It was demonstrated that the positive rate detected for the presence of URR in HPV-16 was 89.47% (17/19). Compared with the previously published sequence in URR of prototype HPV-16, some mutations were detected in the sequence of URR. The mutations in 17 URR fragments of HPV-16 could be divided into 11 patterns (XJU-1 to XJU-11) at nucleic acid level, in which each of XJU-1 and XJU-4 accounted for 23.53% (4/17), and other patterns of mutation accounted for 5.88% (1/17) . In comparison with the URR of prototype HPV-16, the DNA identity of these patterns was 98.50%-99.68% . In these 17 URR fragments, two point mutations occurred at position 7192 (G to T) and position 7520 (G to A) and they appeared to be constant in Xinjiang area. These two mutations were ubiquitous in the Asia-American type and conferred strong infection activity and carcinogenicity of this virus. In addition, the mutations at position 7729 (A to C), position 7843 (A to G) and position 7792 (C to T) could enhance its transcription activity considerably. It is concluded that some mutations occur in URR gene of HPV-16 in the cervical cancer biopsies taken from Uygur women in Xinjiang area, suggesting that certain relationship exists among the mutations in URR of HPV-16, the phylogeny of HPV-16 and the high incidence of cervical cancer in southern part of Xinjiang area.

Sequence polymorphism of human mitochondrial DNA control region in Chinese Dongxiang unrelated individuals

Objective: To investigate the mitochondrial DNA sequence polymorphism in Chinese Dongxiang ethnic group and to provide basic data used in ethnic origin investigation and forensic purpose. Methods: Genomic DNA was extracted from the whole blood of 100 unrelated individuals of Chinese Dongxiang ethnic group by standard Chelex-100 method. The sequence polymorphism was determined by PCR amplification and direct sequencing. Results: Eighty-two polymorphic sites were identified in mtDNA D-loop region 16 091 - 16 418 np, and 88 haplotypes were found. The genetic diversity was calculated to he 0.9969, and the genetic identity was 0.013 2. Conclusion: There are some particular polymorphic sites in Chinese Dongxiang ethnic group, and these sites provide an important basis to investigate the origin of Dongxiang and the relationship between Dongxiang and other ethnic groups. The result also suggested that sequence polymorphism from 16 091 -16 418 np in human mitochondrial DNA control region can be an useful tool for forensic identity.

Polymorphism in the Regulatory Region of the Aromatase CYP19a Gene in Nile Tilapia

The aim of this study was to evaluate the polymorphism in a portion of the gene regulatory region for ovarian aromatase （CYP19a） in three strains of Tilapia, Oreochomis niloticus （Linnaeus） （GIFT--Genetically Improved Farmed Tilapia, Chitralada and Supreme）. A total of 90 animals per strain of Tilapia, Oreochromis niloticus （Linnaeus） were analysed. After DNA extraction, samples were subjected to PCR using primers designed to flank the region of interest encompassing the sites of transcription （WT1-KTS and SRY）. Samples were analyzed by PCR-SSCP and subsequently sequenced. Three polymorphisms were identified in this region, resulting in two different sequences, in the GIFT strain while no polymorphism was found in both Supreme and Chitralada strains. At the position - 1178 the substitution of a guanine for a cytosine, at the - 1081 the exchange of guanine for adenine and at the position -1 138 we found a SNP, possible site of heterozygosity. Even with polymorphisms in the target study area, when taking the three strains into account, one can assume that the portion of the regulatory region of the ovarian aromatase gene in the Supreme strain and Chitralada does not show polymorphism.

TYMS gene 5'-and 3'-untranslated region polymorphisms and risk of non-syndromic cleft lip and palate in an Indian population

Dear Editor： Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes are associated with an increased incidence of non-syndromic cleft lip with or without cleft palate （NSCLP）tlj. Thymidylate synthase （TS） is a folate-dependent enzyme that catalyzes methylation of 2＇-deoxyuridine-5＇-monophosphate （dUMP） to 2＇-deox- ythymidine-5＇-monophosphate （dTMP）, a rate-limiting step in DNA synthesis,

鄂尔多斯地区妊娠早期女性MTHFR C677T基因多态性与同型半胱氨酸的关系分析

目的 通过对鄂尔多斯地区妊娠早期女性MTHFR C677T基因多态性与同型半胱氨酸进行分析,明确MTHFR C677T基因多态性分布特点及二者之间的相关性,为科学指导妊娠期叶酸补充及预防出生缺陷提供遗传学依据。方法 选取2022年9月至2023年9月在鄂尔多斯市中心医院妇科门诊建档并进行妊娠早期检查的602例汉族妊娠早期女性作为研究对象,所有患者采集血液标本,采用PCR芯片杂交法检测MTHFR C677T基因多态性、生化酶循环法检测同型半胱氨酸水平,统计分析MTHFR C677T位点基因型与等位基因频率及与同型半胱氨酸的关系。结果 MTHFR C677T基因多态性CC、CT和TT型的检出频率分别为23.6%、47.5%、28.9%,等位基因C、T的检出频率分别为47.3%和52.7%,与上海、温州、眉山、南宁等地区汉族女性相比差异均有统计学意义(P<0.05),但与西安地区汉族女性相比差异均无统计学意义(P>0.05)。TT基因型孕妇血清同型半胱氨酸水平均高于CC和CT基因型孕妇,CT基因型孕妇血清同型半胱氨酸水平高于CC基因型孕妇(P<0.05)。MTHFR C677 T位点CT和TT基因型均为该地区妊娠早期女性发生高同型半胱氨酸血症的危险因素,分别为CC基因型的2.80倍和8.07倍,且差异均有统计学意义(P<0.05)。结论 鄂尔多斯汉族妊娠早期女性MTHFR C677T基因多态性分布具有地区特点,且与同型半胱氨酸水平有一定联系,妊娠期根据不同基因型制订个性化的叶酸补充方案对于预防出生缺陷具有重要意义。

草鱼MHCⅠα基因克隆及其多态性特征分析

主要组织相容性复合体(MHC)是存在于脊椎动物染色体上、呈高度多态性的基因群,与机体的抗病性密切关系。MHCⅠ类分子由α链和β_(2m)微球蛋白组成,α链呈高度多态性。为探究草鱼MHCⅠα基因的多态性特征,本研究对3个草鱼个体的MHCⅠα基因进行克隆和测序,并使用生物信息学方法分析比较草鱼与小鼠、牛和鸡的MHCⅠα基因多态性特征。结果:共获得了5条草鱼MHCⅠα基因型序列,其基因编码332个氨基酸,包括信号肽、α1、α2、α3和TM/CY区域。草鱼MHCⅠα基因的氨基酸变异位点主要分布在α1和α2区域,与小鼠、牛和鸡MHCⅠα基因肽结合区(PBR)空间结构相似,多态性位点分布在抗原递呈的关键部位α螺旋或β折叠上。草鱼MHCⅠα基因的进化受自然环境的负向选择作用,而其他3个物种的进化方式均为正向选择。此外,草鱼MHCⅠα基因与其他脊椎动物亲缘关系较远,单独构成进化树上一大分支,且个体间继续分化为不同的亚支。本研究从基因层面阐述了草鱼MHCⅠα基因多态性特征和分子进化规律,为进一步探究低等脊椎动物MHCⅠα基因的生物学特征奠定基础。

黑龙江地区老年脑梗死患者CYP2C19基因多态性对氯吡格雷疗效的影响

目的探讨黑龙江地区脑梗死患者接受氯吡格雷治疗时CYP2C19基因多态性对治疗效果的影响。方法选取2022年1—12月在黑龙江省医院神经内科住院的90例脑梗死患者为研究对象。检测CYP2C19基因多态性,根据检测结果,将患者分为3组,快代谢组(n=26)、中等代谢组(n=52)和慢代谢组(n=12)。所有患者均给予氯吡格雷治疗,对美国国立卫生研究院卒中量表(National Institute of Health stroke scale,NIHSS)评分及预后情况进行观察对比。结果在脑梗死患者中以快代谢型和中等代谢型为主要类型。治疗2周后,3组NIHSS评分低于治疗前,差异有统计学意义(P<0.05);且快代谢组评分为(6.23±1.38)分,低于中等代谢组、慢代谢组的(7.76±1.71)分、(10.12±1.29)分,差异有统计学意义(P<0.05);快代谢组和中等代谢组预后良好率高于慢代谢组(P<0.05);快代谢组、中等代谢组和慢代谢组不良反应总发生率比较,差异无统计学意义(P>0.05)。结论通过对老年脑梗死患者行CYP2C19基因型检测来评估对氯吡格雷治疗的药物代谢能力和反应情况。有助于制定个体化的治疗方案,提高治疗效果并降低不良反应的发生率,可以最大限度地提高治疗效果,减少风险发生。

贵州地区急性淋巴细胞白血病儿童TPMT、NUDT15基因多态性与6-MP耐受性分析

目的观察贵州地区ALL儿童TPMT、NUDT15基因多态性,探讨其与6-MP耐受性的关系。方法收集贵阳市儿童医院血液科住院的贵州地区ALL儿童。Sanger法检测患者NUDT15c.415C>T和TPMT*2、TPMT*3A、TPMT*3B、TPMT*3C基因型。所有ALL儿童均按CCLG-2008方案化疗,每周1次监测血常规及肝肾功能。根据2016新编WHO化疗药物毒性反应分度标准,出现Ⅲ~Ⅳ度与6-MP相关的毒性反应,称为6-MP不耐受(除外感染、其他药物影响)。分析TPMT、NUDT15基因多态性与6-MP不耐受的相关性。结果共纳入患者60例,检测到TPMT突变(中间代谢型)3例(5%),正常代谢型57例(95%)。NUDT15基因CT型12例(20%),TT型1例(1.7%),CC型(野生型)47例(78.3%)。NUDT15基因突变率21.7%(13/60)显著高于TPMT基因突变率5%(3/60),差异有统计学意义(P=0.007)。TPMT突变型3例均发生6-MP不耐受(100%),NUDT15突变型13例中11例发生6-MP不耐受(84.6%)。结论TPMT、NUDT15基因突变与6-MP不耐受相关(P<0.05),联合检测TPMT、NUDT15基因对调整6-MP使用,减少6-MP不良反应提供依据。

基于SCAR标记和DNA条形码技术的苍术基原鉴别研究

目的开发出能同时鉴别北苍术和关苍术的分子标记方法,并探究不同种质资源苍术的遗传进化关系。方法对不同地区北苍术Atractylodes chinensis(Bunge)Koidz及关苍术A.japonica Koidz.ex Kitam基因组DNA的差异片段进行测序,结合SRAP、ISSR、DAMD分子标记方法,优化PCR反应体系,筛选并转换成特异性标记,同时,采用条形码方法分析种间序列差异。结果通过SRAP、ISSR、DAMD三种分子标记方法的PCR扩增,共筛选出198对能稳定扩增且重现性好的引物,转换出7对能稳定、快速鉴别北苍术和关苍术的SCAR引物。条形码方法检测出北苍术ITS2序列长度为454 bp,关苍术ITS2序列长度为453 bp,与其他苍术属植物之间遗传距离较远。NJ树结果显示,北苍术、关苍术及其他苍术属植物均各自聚为一支,表现出良好的单系性。依据ITS2二级结构,4种苍术属植物在螺旋区的茎环数目、大小、位置均有明显差异,可以直观地进行区分。结论所开发的特异性SCAR标记为苍术属植物优良品种的筛选提供了新方法,DNA条形码能稳定、准确鉴别北苍术。

植物地境生态因子的多态性研究——以南太行丘陵区为例

以南太行丘陵区为例,针对不同生活型植物的根群挤在同一层片中的情况,研究植物地境生态因子多态性,确定“乔木+灌木”优势植种组合的适生因子空间,得出结论:(1)丘陵生态子系统优势植种组合为:构树+黄荆、柏树+黄荆、榆树+黄荆、臭椿+黄荆、火炬树+黄荆、楝树+黄荆和构树+酸枣。0~20 cm为一年生植物地境稳定层,20~100 cm为以乔木、灌木为主的多年生植物地境稳定层。(2)丘陵生态子系统不同优势植种组合有不同的适生范围,地境的有机质含量、含盐量、土壤氮磷钾综合指数均有所不同。(3)丘陵生态子系统不同优势植种组合共生的地境最适范围:含水率为25.80%~30.45%,有机质含量为0.71%~2.95%,含盐量为0.75~1.33 mg·g^(-1),土壤氮磷钾综合指数为1.03~1.52。

海南汉族和黎族人群PCSK9基因E670G多态性与急性心肌梗死的相关性

目的研究海南地区黎、汉族人群PCSK9基因E670G多态性与急性心肌梗死的相关性,为不同种族人群心肌梗死的预防、治疗提供科学基础依据。方法选取海南地区急性心肌梗死患者210例(黎族104例,汉族106例)为实验组、健康人群223名(黎族110名,汉族113名)为对照组,测定两组研究对象血清三酰甘油(triacylglycerol,TG)、总胆固醇(total cholesterol,TC)、低密度脂蛋白胆固醇(low-density lipoprotein-cholesterol,LDL-C)、高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)浓度,采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction linked restriction fragment length polymorphism,PCR-RFLP)检测PCSK9基因E670G酶切位点多态性。结果心肌梗死组患者血压、空腹血糖(fasting blood glucose,FBG)、TG、TC、LDL-C浓度高于健康对照组,HDL-C浓度低于健康对照组,差异有统计学意义(P<0.05)。心肌梗死组患者PCSK9基因AG、GG基因型频率及G等位基因频率高于健康组,差异有统计学意义(P<0.05)。黎族、汉族心肌梗死组患者AG、GG基因型频率、G等位基因频率均高于健康组,差异有统计学意义(P<0.05)。黎族心肌梗死组患者GG基因型频率、G等位基因频率低于汉族心肌梗死组,差异有统计学意义(P<0.05)。黎族、汉族健康对照组GG基因型频率、G等位基因频率比较,差异无明显统计学意义(P>0.05)。心肌梗死组中GG基因型患者的TG、TC、LDL-C浓度高于AA基因型;AG与AA、GG与AG基因型患者间TG、TC、HDL-C、LDL-C浓度比较,差异无统计学意义(P>0.05),但与AA基因型相比,G等位基因携带者有较高的TG、TC、LDL-C浓度趋势。结论海南地区黎、汉族人群PCSK9基因E670G多态性与急性心肌梗死及血脂浓度密切相关;海南地区黎、汉族人群急性心肌梗死患者PCSK9基因E670G多态性存在差异。

贵阳地区原发性高血压患者降压药物疗效相关基因的多态性

目的分析贵阳地区原发性高血压(EH)患者降压药物疗效相关基因座的分布特征,以期为该地区高血压患者的个体化用药提供指导。方法以2020年12月至2021年12月在贵航贵阳医院心内科就诊的406例EH患者为研究对象,采用连接酶测序法对降压药物疗效相关的7个基因座予以检测,比较不同性别、不同地区EH患者基因座分布情况。结果CYP2D6*10(c.100 C>T)、CYP2C9*3(c.1075 A>C)、ADRB1(c.1165 G>C)、AGTR1(c.1166 A>C)、ACE(I/D)、NPPA(T2238C)和CYP3A5*3(A6986G)7个基因的突变频率分别为47.29%、5.91%、73.15%、6.65%、34.24%、0.49%、69.70%;高血压药物相关基因多态性的分布频率在不同性别间差异均无统计学意义。结论7个降压药物疗效相关基因座等位基因分布频率和性别无关。贵阳地区EH患者对β受体阻滞剂、钙拮抗剂较为敏感,对其他类型降压药的敏感度一般。故临床在应用β受体阻滞剂、钙拮抗剂时需适当调整剂量。

开封地区汉族人群CYP2C19基因多态性与国内其他地区的对比分析

目的:分析开封地区汉族人群CYP2C19基因多态性分布特点,并与国内其他地区汉族人群、其他民族人群相关数据对比。方法:回顾性分析2017年5月至2022年10月于某医院就诊并检测CYP2C19基因多态性患者的病历资料,建立开封地区汉族人群CYP2C19基因多态性数据库,分析该人群CYP2C19基因多态性特点,并与国内已经报道的其他地区汉族数据、其他民族数据对比分析。结果:收集开封地区汉族患者1098例,其中CYP2C19*1、*2、*3等位基因的分布频率分别为64.25%、30.60%、5.15%,CYP2C19*1/*1、*1/*2、*1/*3、*2/*2、*2/*3、*3/*3基因型的分布频率分别为41.62%、39.62%、5.65%、9.02%、3.55%、0.55%,CYP2C19基因快、中、慢代谢型分布频率分别为41.62%、45.26%和13.11%。本研究人群CYP2C19各等位基因、基因型、代谢型的分布在男性人群和女性人群之间无显著差异(P>0.05),在≤60岁人群和>60岁人群之间也无显著差异(P>0.05),与我国重庆、云南、宁德、福建、福州、广州、浙江、大连、北京、甘肃、新疆的汉族人群比较无统计学差异(P>0.05),但与少部分地区,如沈阳汉族人群、江苏汉族人群及泉州汉族人群存在统计学差异(P<0.05)。本研究人群CYP2C19各等位基因、基因型、代谢型分布与我国大部分少数民族,如新疆维吾尔族、新疆哈萨克族、贵州苗族、银川回族、甘肃回族、宁夏回族、闽东畲族、内蒙古蒙古族、贵州布依族人群均存在统计学差异(P<0.05),但与云南白族、云南傣族、海南黎族、甘肃藏族、浙江畲族人群无统计学差异(P>0.05)。结论:开封地区汉族人群中CYP2C19基因多态性分布与性别、年龄无关,但该地区人群中携带CYP2C19*2、*3功能缺失基因者占58.38%,为中间代谢型者占45.26%,为慢代谢型者占13.11%。因此,建议对该人群中需要使用氯吡格雷的患者进行CYP2C19基因多态性检测,以指导个体化用药。另外,开封地区汉族人群CYP2C19基因多态性分布与我国多数地区的汉族人群相似,但与我国多数地区的少数民族人群存在显著差异。

槐山羊PFOXic基因多态性与间性性状关联分析

间性是一种多发于山羊群体的先天性繁殖障碍疾病。为了解槐山羊间性性状发生机制,叉头转录因子2(FOXL2)启动子反向互补(PFOXic)基因的遗传多态性及其与间性性状的关系,本试验进行了间性槐山羊Y染色体易位分析、无角间性综合征(PIS)区缺失检测、PFOXic基因单核苷酸多态性(SNP)分析和PFOXic基因型与间性性状的关联分析。结果显示,间性槐山羊染色体构成不含Y染色体,且PIS区均纯合缺失;在PFOXic基因中共检测到4个SNP:g.129749119 T>C、g.129749087 C>T、g.129748782 T>C和g.129747880 T>C,其中g.129749087 C>T为错义突变。SNP突变位点分析结果显示,g.129749119 T>C、g.129748782 T>C和g.129747880 T>C突变为中度多态,g.129749087 C>T突变为低度多态,4个SNP均处于Hardy-Weinberg平衡(P>0.05)。SNP和基因型与间性性状关联分析结果显示,g.129749119 T>C突变位点与槐山羊间性性状之间存在显著相关性(P=0.023),CC基因型与CT和TT基因型间均差异显著(P<0.05);单倍型与间性性状关联分析结果显示,CCCC单倍型与CTTT单倍型间差异显著(P<0.05),CCCC单倍型与TCCT和TCCC单倍型间均差异极显著(P<0.01)。结果表明,间性槐山羊PIS区缺失,且PFOXic基因g.129749119 T>C突变与间性性状相关,本试验结果为进一步研究山羊间性性状发生机制和PFOXic基因功能提供参考依据。

E670G polymorphism of PCSK9 gene of patients with coronary heart disease among Han population in Hainan and three provinces in the northeast of China

Objective: To investigate the correlation between E670 G polymorphism of proprotein convertase subtilisin/kexin type 9(PCSK9) gene and coronary heart disease(CHD), and contrastively study the regional differences of E670 G polymorphism of PCSK9 gene between patients with CHD among the Han population in Hainan and three provinces in the northeast of China(TPNC), providing scientific basis for prevention and treatment of patients with CHD in different regions. Methods: A total of 233 cases of patients with CHD were selected from the Han population in Hainan and TPNC as the experimental group(118 cases from Hainan, 115 cases from TPNC), and 239 cases with non-CHD were selected among the Han population also in the two regions as control group(125 cases from Hainan, 114 cases from TPNC). The triglyceride(TG), total cholesterol(TC), high density lipoprotein cholesterol and low density lipoprotein cholesterol(LDL-C) levels of plasma were tested and PCR-RFLP method was used to test the E670 G polymorphism of PCSK9 gene. The statistical software package SPSS 21.0 was used for the statistical analysis and P<0.05 was considered as statistically significant. Results: The levels of systolic pressure, diastolic blood pressure, fasting blood sugar, TC, TG, and LDL-C of patients in CHD group were significantly higher than those in non-CHD group, while the high density lipoprotein cholesterol level was lower than that in non-CHD group(P<0.05). In CHD group, the frequencies of AG, GG genotypes of PCSK9 gene and G allele were higher than those in non-CHD group(P<0.05), and in CHD group, the frequencies of AG, GG genotypes and G allele of patients both in Hainan and TPNC were higher than those in control group(P<0.05). Among the patients with CHD, the frequencies of GG genotype and G allele of patients in Hainan were lower than those in TPNC(P<0.05), and in CHD group, the levels of TG, TC and LDL-C of GG genotype were higher than those of AA genotype(P<0.05). While in non-CHD group, there were no significant differences between the frequencies of GG genotype and G allele of patients in Hainan and TPNC(P>0.05). Conclusions: There was a close correlation between the E670 G polymorphism of PCSK9 gene and CHD with serum lipid level. Among Han population in Hainan and TPNC, the E670 G polymorphism of PCSK9 gene of patients with CHD exhibited regional differences.

Interleukin-10 promoter polymorphisms in patients with hepatitis B virus infection or hepatocellular carcinoma in Chinese Han ethnic population

BACKGROUND: Since single nucleotide polymorphisms (SNPs) can serve as gene markers, polymorphism profiles may help scientists to identify the full collection of genes that contribute to the development of complex diseases such as cancer. The distribution of interleukin-10 (IL-10) promoter polymorphisms in Chinese Han ethnic patients with hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC) was investigated in this study. METHODS: The polymorphisms of IL-10 promoter region were detected by pulymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and sequencing. Sixty-six health controls, 42 patients with HBV infection, 30 HCC patients, and cell line SMMC-7721 were examined this way. RESULTS: Polyrnorphisms of T/C or T/N on-872 site occurred frequently in Han ethnic population. Pulyrnorphisms were detected in HBV and HCC patients and cell line SMMC-7721. The hotspot among the pulymorphisms was inserting base A between-1058 and-1057. CONCLUSION: Polymorphisms of IL-10 promoter in HBV and HCC patients may be associated with HBV infection and HCC development.