汉族左利人群指纹和趾纹的研究

本文对长治市部分左利人群和右利人群的指纹和趾纹进行了对比分析。结果表明,左利人群的指端A、A^t、L^r频率和趾端A、A^n频率均显著低于对照组,而指端和趾端的W及W^4频率均显著高于对照组。结论：左利人群的指纹和趾纹可能有其自身的遗传特征。     

皖南汉族的跖纹研究

本文分析了安徽皖南地区520例(男女各260人)汉族健康人的跖纹样本。追踪了跖纹A、B、C、D、E和P线止区,发现A、B、C、D线多止于1区;E 线主要走向13区;p三叉缺失较多,P远侧射线止区较高,而腓侧射线止区较低。母趾球纹为L>W>A。各趾间区真实花纹依次用为Ⅲ>Ⅱ>Ⅳ。足小鱼际远侧真实花纹较多,其他跖区较少。在性别、民族和人种间进行了比较,并对差异的原因进行了讨论。     

趾跖嵴纹数与智力发育相关性的研究

本工作对遗传型智力残疾患者和非遗传型智力残疾患者各50例的趾端、拇趾球区、小鱼际远端区、趾间区的皮肤嵴纹数进行分析,并分别与对照组的同类资料比较。遗传型智残组与对照组比较,其趾端、拇趾球区、b～cRC、c～dRC均存在着非常显著的差异,P<0.001;其小鱼际远端区、a～bRC具有显著差异,P<0.05。非遗传型智残组与对照组的比较,其趾端、拇趾球区、a～bRC、b～cRC 的差异均无显著意义,P>0.05;小鱼际远端区、c～dRC具显著差异,P<0.05。这些结果表明,小鱼际远端区皮肤嵴纹数在诊断智残患者中有一定参考价值,趾端、拇趾球区、各趾间区的皮肤嵴纹数在智残患者的诊断中以及遗传型与非遗传型智残患者的鉴别方面都有一定的参考价值。 Abstract： Total Ridge Count of toe,hallucis area,hypothenar distal and interdigitorum of each 50 cases of hereditary and nonhereditary mental deficiency groups were analysed,and compared with those of the control groups respectively.TRC of toe,hallycis area,b～c and c～d of hereditary mental deficiency groups,compared with those of the control groups,had great significent difference (P<0.001)and TRC of hypothenar distal and a～b had significent difference (P<0.05).Non－ hereditary mentale deficiency was compared with the control group;TRC of toe,hallycis area,a～band b～c had no significent difference (P>0.05);TRC of hypothenar distal and c～d had significent difference (P<0.05).The results showed that TRC of hypothenar distal had reference value to diagnose mental deficiency,and TRC of toe,hallucis area and each interdigitorum had a certain reference value to diagnose mental deficiency and distinguish between hereditary and non－hereditary mental deficiency.     

我国代表地区须癣毛癣菌复合体的分子鉴定与分型研究

目的对我国代表地区的须癣毛癣菌菌株进行分子再鉴定和分型研究。方法选取我国南北方8个省市地区经表型鉴定的须癣毛癣菌菌株47株,通过再培养形态观察、生理试验;PCR扩增核糖体DNA(rDNA)的内转录间隔区(ITS)和核糖体大亚基(LSU)D1-D2区,测序后利用数据库进行序列比对,对须癣毛癣菌复合体进行再鉴定;PCR扩增rDNA非转录间隔区(NTS)的三个串联重复亚单位S0、S1和S2区,进行种内分型,并比较不同部位来源菌株型别的差异性。结果我国南北方8个省市地区47株须癣毛癣菌中3株鉴定为断发毛癣菌,6株鉴定为无性型苯海姆节皮菌,其余均鉴定为万博节皮菌中的亲人型趾间毛癣菌;三对不同引物扩增38株趾间型毛癣菌和2株苯海姆节皮菌NTS区,共产生28种特征性带型。带型和菌株来源及发生部位无相关性。结论我国分离自人类须癣毛癣菌复合体的主要组成菌种为趾间毛癣菌;ITS区结合LSU D1-D2区测序有助于鉴定须癣毛癣菌复合体至种水平;NTS区的三个串联重复亚单位所产生的特征性指纹图提供了一种快速、稳定的分子生物学种内分型方法,可应用于趾间毛癣菌感染的流行病学研究。     

野生大豆与栽培大豆rDNA ITS1区的研究

采用ＰＣＲ 技术从野生大豆（Ｇｌｙｃｉｎｅ ｓｏｊａ）、半野生大豆（Ｇ．ｇｒａｃｉｌｌｉｓ）、多年生野生大豆（Ｇ．ｔｏｍｅｎｔｅｌｌａ、Ｇ．ｔａｂａｃｉｎａ）和栽培大豆（Ｇ．ｍ ａｘ）的两个品种ＵＮＩＯＮ、文丰７ 中扩增和克隆了ｒＤＮＡ第一转录间隔区（ＩＴＳ１）。其在Ｇ．ｍ ａｘ 基因组中的拷贝数约为２×１０３。序列分析表明Ｇ．ｓｏｊａ、Ｇ．ｇｒａｃｉｌｌｉｓ、Ｇ．ｍ ａｘ 中的Ｇ／Ｃ含量为６１．４０％ ,而Ｇ．ｔａｂａｃｉｎａ和Ｇ．ｔｏｍ ｅｎｔｅｌｌａ的Ｇ／Ｃ含量分别为５８．１１％ 和５９．０１％ ,与绿豆Ｇ／Ｃ含量（５９．８１％ ）相近。Ｇ．ｔａｂａｃｉｎａ的Ｇ／Ｃ含量是已知的植物中ＩＴＳ１ 最低的。最大同源性分析表明,大豆属植物ＩＴＳ１ 的同源程度很高,同其近缘属绿豆的同源性明显高于其它作物。同时分析了栽培、多年生和一年生野生大豆间的亲缘关系。另外还发现在已知的植物ＩＴＳ１ 序列中均含有ＧＡＣＣＣＧＣＧＡＡ 及ＧＣＧＣＣＡＡＧＧＡＡ 两个区段     

线粒体DNA缺失与神经肌肉性疾病的研究

应用PCR技术对13例神经肌肉疾病患者的线粒体DNA缺失进行了研究。结果表明,其中二例肢带型肌营养不良症患者骨骼肌组织和一例帕金森氏病患者的血细胞线粒体DNA中存在至少526bp的缺失。提示线粒体突变在一些神经肌肉性疾病的发生中起一定的作用。 Abstract: Using PCR technique,we analysed the skeletal muscle and blood of 13 patients with neuromuscular disaeases.The results show that a mutant mitochondrial DNA with at least 526bp deletion exits in the skeletal muscles of 2 patients with Erb muscular dystrophy and in the blood of a patients with Parkinson’s disease.From our results,mitochondrial DNA mutations could be an important contributory factor to neuromuscular diseases.     

汉族左利人群的指纹研究

对111名长治市的汉族左利手者的指纹进行了分析研究, 并与138名右利手者组成的对照组进行了对比分析, 发现左利手组的双箕斗纹（Wd）显著高于对照组(P<0.005)。 Abstract　To study the distribution difference of fingerprint patterns between left-handed and normal populations of Han nationality in Changzhi area, We investigated the frequencies of fingerprint pattern combinations in one or two hands. Comparing the normal population (80 men and 58 women), the left-handed population (58 men and 53 women) posessed higher Wdrate (P<0.005).     

暗纹东方TUN 同工酶生化表现型的研究

利用聚丙烯酰胺凝胶垂直平板电泳方法,对暗纹东方|TUN|的心、肝、肾、肌、性腺5种不同组织的7种同工酶(EST、LDH、POD、MDH、SOD、SDH、α-AMY)进行了研究, 讨论了各同工酶的基因表达谱式,观察到EST同工酶存在着多态现象;LDH同工酶有二个基因位点,但只表现3条带,A与B亚基的结合受阻; MDH同工酶存在性别差异,说明决定MDH同工酶表达的因素在不同性别中存在差异;SOD同工酶有3个基因位点。各同工酶酶谱稳定,有组织特异性,但EST、MDH、SOD、POD同工酶在各组织器官中又表现出较大的一致性,有利于物种的鉴定。α-AMY与SDH只在个别组织中有活性,可能与特定组织与器官的形态发生与机能分化有关。 Abstract:By means of polyacrylamid gel electrophoresis seven isozymes(EST.LDH,SOD,MDH,SDH, α-AMY)in heart,liver,kidney,muscle and gonad of Fugu obscurus were studied.The gene expression patterns of each isozyme were analyzed.The results indicated that polymorphism was detected in EST isozymes;LDH isozymes had two loci,but only three bands could be observed,the random association of two subunits(A and B)were restricted;Some MDH isozymes existed sexual differences in identical tissues.The suggested that the factors controlling the expression of MDH isozymes were different between sexes.All the isozyme phenotypes exhibited tissue-specificity and stability,but EST,MDH,SOD and POD isozymes showed relatively consistence in the five tissues.Their characteristic bands could be used in species determination.The activities of SDH andα-AMY isozymes could only be detected in some tissues and closely correlated to the morphological or functional differentiation of those tissues or organs.     

指间区纹的遗传学研究Ⅱ.指间区纹的镶嵌显性遗传

10 1个核心家庭的指间区纹分布状况经分析发现Ⅲ、Ⅳ区 ,左右手控制花纹的基因都是等位的。Ⅲ、Ⅳ区是等位的不同基因的镶嵌显性遗传。一个基因同时控制左右手对应区 ,不同基因表达的左右对称度不一。复等位基因中有 6种是完全显性的 ,另发现一种不完全显性。这是指区间区纹的主基因 ,还极少地存在着一种隐性的Ⅲ区纹基因。在随机人群中计算出了这些基因的频率。这一遗传模型可有亲子鉴定佐证等应用。     

以胞质分裂阻滞法研究女性年龄与体细胞中 21号染色体分离异常的关系

21三体是人类最常见的先天性疾病,约95%患儿的超数21号染色体来源于母亲,且随母龄增加患儿出生率也随之增加。本文首次运用胞质分裂阻滞法(CB法)对不同年龄女性体细胞进行荧光原位杂交,对其21号染色体的分离情况进行分析。结果表明,随年龄的增加,女性体细胞中21号染色体不分离也随之增加,但21号染色体丢失无年龄效应, 且21号染色体不分离频率远高于其丢失。该结果表明,女性体细胞中21号染色体不分离与生殖细胞同样存在年龄效应。 Abstract　　Trisomy 21 is the most common genetic desease in human. More than 90% is derived from mother. With the advancing of mother's age, the frequency of trisomy 21 is increasing. We detected the relation between chromosome 21 missegregation and age in cytokinesis-blocked female lymphocytes by　in situ　hybridization with chromosome 21 specfic probe. We have found that the age effect also exists in female somatic cells as in gamets.     

我国汉族和彝族rRNA基因多态性的研究

人类ｒＤＮＡ顺序既偏偏保守性积蓄高的转录区,又有变异性较大的不转录间隔区。随着对ｒＤＮＡ结构的不断认识,发现对不转录间隔区特征的研究在分子群体遗传学上具有重要的价值。我们运用ｒＤＮＡ基因探针和Ｓｏｕｔｈｅｒｎ印迹法对甸汉族和彝族ｒＲＮＡ基因３＇端不转录间隔区作多态性分析,ＲＦＬＰ特征揭示两个民族有广泛的共性,又有各自的特点,这一遗传标志对少数民族群体遗传学乃至我国民族的迁移和演化的研究有重要意义。     

Complex structure of the ribosomal DNA spacer of Cucumis sativus (cucumber)

Summary The nuclear 18 S, 5.8 S and 25 S ribosomal RNA genes (rDNA) of Cucumis sativus (cucumber) occur in at least four different repeat types of 10.2, 10.5, 11.5, and 12.5 kb in length. The intergenic spacer of these repeats has been cloned and characterized with respect to sequence organization. The spacer structure is very unusual compared to those of other eukaryotes. Duplicated regions of 197 bp and 311 bp containing part of the 3 end of the 25 S rRNA coding region and approximately 470 bp of 25 S rRNA flanking sequences occur in the intergenic spacer. The data from sequence analysis suggest that these duplications originate from recombination events in which DNA sequences of the original rDNA spacer were paired with sequences of the 25 S rRNA coding region. The duplicated 3ends of the 25 S rRNA are separated from each other mostly by a tandemly repeated 30 bp element showing a high GC-content of 87.5%. In addition, another tandemly repeated sequence of 90 bp was found downstream of the 3flanking sequences of the 25 S rRNA coding region. These results suggest that rRNA coding sequences can be involved in the generation of rDNA spacer sequences by unequal crossing over.     

安徽汉族免疫性不育症与HLA-DQA1基因的相关性研究

目的:探讨抗精子抗体阳性的免疫性不育症患者与HLA-DQA1基因的相关性。方法:采用聚合酶链反应-序列特异性引物(PCR-SSP)技术,对50例抗精子抗体阳性的免疫性不育症患者和60例正常健康者的HLA-DQA1基因进行分型研究。结果:2组均未发现DQA1I0104和DQA1I0302两种基因型。免疫性不育症组DQA1I0401等位基因频率明显高于正常对照组(RR=5.5,P<0.05)。结论:DQA1I0401可能是安徽汉族免疫性不育症的易感基因。     

湖北汉族五项遗传性状的分析研究

报道了湖北医药学院1 498名(男746、女752)汉族大学生的拇指类型、环食指长、手的惯用、手指嵌合、交叉臂共五项人类遗传学经典指标.研究显示:1)拇指类型、环食指长、手指嵌合、交叉臂的分布在男女性别间有显著差异;2)手指嵌合、拇指类型、惯用手、交叉臂、环食指长等性状存在地区间差异;3)惯用手与扣手间存在明显的相互关系.     

广东瑶族青少年学生体表面积研究

研究瑶族青少年身高、体重及体表面积的生长发育状况, 为建立瑶族中小学生健康指标评价体系提供依据。采用Stevenson公式和胡咏梅公式计算每位学生的体表面积, 并求得7—18岁12个年龄组的男女学生的体表面积均数。结果显示: 瑶族青少年学生的身高、体重及体表面积随年龄增长而增长, 且其增长速度男女生均可分为匀速增长期、快速增长期、缓慢增长期3个不同时期; 男女生身高、体重及体表面积发育曲线均出现双交叉现象。两法统计的瑶族青少年的体表面积均随年龄增长而增长。胡咏梅法计算的体表面积大于Stevenson法(P<0.01)。     

Identification of genetic variation in the bovine major histocompatibility complex DRß-like genes using sequenced bovine genomic probes

Two bovine genomic clones that crosshybridize with HLA-DR beta cDNA have been isolated. Nucleotide sequence analysis of the beta 1, beta 2 and transmembrane (TM) exon regions for one of these clones revealed 70, 89 and 86% identity with the corresponding HLA-DR beta exons. Stop codons are present in the beta 1 and TM exons and a single base deletion toward the 3' end of the TM exon negates the consensus sequence for exon/intron splicing. Therefore, we conclude this is a bovine DR beta-like pseudogene, BoDR beta I. Exon-containing regions have been used as probes in Southern blot analyses of bovine genomic DNA digested with EcoRI. The beta 2 exon of BoDR beta I results in prominent bands of 18.9, 7.8, 7.2, 6.4, 5.6, 3.6, 3.0 and 2.7 kb. Polymorphisms were observed for all but the 18.9 kb band and at least three of these bands were identified in each of the 185 animals sampled. A probe containing the TM exon of BoDR beta I hybridizes only to the 5.6- and 3.6-kb bands, suggesting that these are allelic bands corresponding to this pseudogene. Results from hybridizations of a TM exon-containing probe of the second bovine DR beta-like clone (BoDR beta II) suggest that the 6.4- and 2.7-kb bands correspond to this second bovine gene. A nonpolymorphic 8.1-kb band results from a probe containing the BoDR beta I beta 1 exon. Major differences in frequency for the 6.4/2.7 alleles were found for the four breeds sampled.     

商洛多花胡枝子根瘤菌16S rDNA-RFLP分析及系统发育研究

利用16S rDNA-RFLP和全序列测定方法,对分离自商洛地区5个分布点的59株多花胡枝子根瘤菌进行了RFLP分析和系统发育研究.结果表明:(1)42株供试菌株归属根瘤菌属(Rhizobium)、11株归属中华根瘤菌属(Sinorhizobium).其余6株非根瘤菌中3株是嗜麦芽黄单胞菌(Stenotrophomonas maltophilia)、3株是解淀粉类芽孢杆菌(Paenibacillus amylolyticus),说明胡枝子根瘤内生菌较为丰富且类型多样.(2)结合供试菌株的地理生境分析,发现来自不同采集点的菌株有些具有同样的遗传类型,而来自同一采集点的菌株遗传类型却有差异,证明胡枝子根瘤菌在分群类别上与地理环境之间没有明确的对应关系,地理环境并非根瘤菌多样性形成的主要因素.建议今后对根瘤菌多样性研究应从根瘤菌与寄主植物物之间的共生选择进化,特别是对共生体系中基因的横向转移方面进行深入探讨.     

冀南地区汉族人群皮纹分析

本文研究了冀南地区健康汉族医学生1020例(男性510人, 女性510人)的皮纹, 探讨了冀南地区正常汉族群体皮纹特点。结果发现: 冀南地区群体指纹频率顺序: 尺箕纹>斗形纹>弓形纹>桡箕纹; 十指指纹类型分布有显著差异; 两性斗形纹分布有显著差异; 两手弓形纹分布有差异但不显著; 指纹纹型分布有极高对称性; 同名指指纹组合频率排序为L/L>W/W>L/W>A/L>A/A>A/W; 五指的FRC有显著差别、两性的TFRC有差异, 但不显著; 两性T/I、III、IV的真实花样出现率有差异。因此, 本文认为指纹分布具有同型组合极高亲和性、异型组合不相容性; 皮纹发育形成主要受遗传因素控制, 也受性别影响; 冀南地区人群可能与山东省、辽宁省同属中国汉族北方群同一亚群。     

Repeated DNA sequences found in the large spacer of Vicia faba rDNA

In the large spacer of the rDNA of Vicia faba, multiples of a 0.32 kilobasepair (kb) sequence reiterate to various degrees. We sequenced the repetitious region consisting of the repeating sequences and its flanking regions using two cloned plasmids, which contain V. faba rDNA segments encompassing the whole region of the large spacer. The repetitious region was found to consist of multiple complete copies and one truncated copy of a 325 bp repeat unit and to be flanked by direct repeat sequences of about 150 bp. The set of direct repeats located at either side of the repetitious region differed from each other with about 10% sequence heterogeneity. However, nucleotide sequences of the direct repeats were well conserved between the two clones examined. Southern blot hybridization indicated a widespread distribution within the whole V. faba genome of some related sequences with high homologies to the 325 bp repeat unit and to the direct repeats.