昆明山海棠遗传毒性评价I.致突效应的研究

本文报道了中药昆明山海棠在Ames试验、人外周血淋巴细胞姐妹染色单体互换（SCE）及小鼠骨髓细胞染色体结构畸变分析中的遗传毒性效应。结果发现,昆明山海棠根部水提取物（THH）(200~800mg/皿)及醇抽提物（ATH）（100~200mg/皿）在TA97、TA100均不同程度地诱发突变。THH在人体外周血淋巴细胞中显著诱发SCE（0.313~0.625mg/ml）。在小鼠骨髓细胞染色体结构分析中,THH未表现出明显的染色体断裂效应（2.5~14.3g/kg）。结果暗示,昆明山海棠对人类遗传物质具有潜在威胁,其临床应用应持谨慎态度。     

恶性淋巴瘤患者及一级亲属染色体脆性部位的研究

本文对24例恶性淋巴瘤患者和20例患者的一级亲属染色体脆性部位进行了观察,发现两组的脆性部位表达率均高于正常对照,并且脆性部位3 14、11 13、6 22和12 13表达显著增高。提示这些特异的脆性部位可能与恶性淋巴瘤遗传易感性有关。Abstract:The Chromsomal aberration rate and expression frequency of common fragile sites were examined in peripheral blood lymphocyted with TC199 medium from 24 patients with malignant lymphoma and 20 of their first-degree relatives. Both the chromosomal aberration rates and expression frequencies of fragile sites obscrved in patient and their relatives were significantly higher than those of control subjects, especially the expression of fra(3)(p14), fra(11)(p22) and fra(12)(q13) which migh be affected by some genetic factors and might play an important role in genetic susceptibility to malignant lymphoma.     

停用TTS后的贮库模型及计算机模拟

本文建立了停用TTS后的角质层药物贮库模型,並籍此模型的解解析设计计算机程序,对形成角质层药物贮库的TTS的体内药物动力学过程进行摸拟,证实了停用TTS后,中心室药量水平先下降,然后上升形成第二峰,而且第二峰药量水平接近拟稳态药量水平。因此,从理论上解释了形成角质层药物贮库的TTS在停用以后,仍能发挥一段时间的治疗作用的临床观察。此外,还分析了这类药物的临床给药方案。     

Structural analysis of DMD gene and its clinical application in Chinese.Ⅰ. Bgl Ⅱ exon-containing fragment,RFLP and carrier detection

INTRoDUCTIONDuchenneandBeckermusculardystrophy(DMD,BMD)areX-linkedrecessivedisorders,affectingabout1in33OOlivebornmales[1].ThegenehasbeenlocatedatXp21byidentificationofunusualpatientswithcytogeneticallyvisibledeletionofXp21l2]orbalancedX:autosometranslocation[3].SubsequentlinkagestudiesusingrandomlyclonedDNAprobesfromthisregionconfirmedthelocalizationofthegenetoXp21[4-5].DeletionsoftheDMDgenein17%ofindividualswithDuchennemusculardystrophy(DMD)werefirstdetectedwiththesingle-copyD…     

血管紧张素原基因多态位点AGT174与原发性高血压相关性的研究

本文采用PCR、限制性酶切和电泳分型等方法,分别对90例原发性高血压患者和109例正常人血管紧张素原基因多态位点AGT174进行了检测,结果表明,高血压组中三种基因型的分布与对照组显著不同,提高该位点变异与原发性高血压的发生相关。 Abstract:The polymorphism of angiotensinogen gene at position 174 was studied in 90 cases of essential hypertension patients and 109 controls by PCR,restriction enzyme analysis and electrophoresis methods.The results showed the distribution of genetypes in hypertension group was significantly different from that of controls group.This suggested there is a correlation between the variant of AGT174 and hypertension.     

中国人苯丙氨酸羟化酶基因的一个新的切接位点突变的鉴定

本文鉴定了苯丙氨酸羟化酶基因355位密码子上的一个新的错义突变Q355 H, 此突变异致谷氨酰胺变成了组氨酸。此突变位点恰位于外显子10和内含子11的交界处, 因此将引起mRNA形成过程中的剪接错误而产生异常的mR NA。Q355H的鉴定为一例苯丙酮尿症胎儿的产前诊断提供了理论依据。 Abstract:A novel missense mutation at code 355 of phenylalanine hydroxlase gene was identified,this mutation caused the substitution of Gln 355 for His 355.The mutant site was at the boundary of exon 10 and intro 11 and might cause splicing errors during RNA processing,Which could result in abnormal mRNA.Identification of Q355H provided a theortic evidence for prenatal diagnosis of a fetus with PKU.     

成骨不全显性遗传一家系五代28例报告

对成骨不全先证者上溯5代372人进行家系调查,发现该家系共有28例成骨不全,其中已死亡10例(成人、儿童各5例),均非死于本病;现生存18例(成人12例、儿童6例)。该28例均身材矮小、身高显著低于同龄正常者;均有蓝色巩膜;符合常染色体显性遗传缺陷的结缔组织病。现存活18例中,耳聋、听力下降6例;骨折9例(22例次),对照文献中分型标准,本组28例与Ⅰ型、Ⅲ型的部分临床特征相符,是否系介于Ⅰ型、Ⅲ型之间的亚型,有待于进一步研究。 Abstract:A pedigree investigation was carried out on 372 relatives in five generations of a proband of osteogenesis imperfecta.The results showed that there were 28 patients in the family.10 of them died from other causes(5 adults and 5 children respectively).Other 18 cases are alive(12 adults and 6 children respectively).The height of the 28 cases were significantly lower than those of the same age.Furthermore,they all had blue scleras.Their clinical manifestations conformed to those of autosomal dominant hereditary connective tissue disease.Among the living 18 cases,6 suffered from deafness or hearing loss and 0 suffered from fracture(22 person-time altogether).According to the classification criteria in the literature,the clinical manifestations of the 28 cases conformed to those of type I and type III,It is necessary to study further whether they belonged to the subtype between type I and type III.     

小麦杂种世代生育期与产量的遗传关系

用二个杂交组合的F2-F4代材料, 研究了小麦生育期性状的遗传变异以及与产量的关系。各生育期的变异如下:开花-成熟期>拔节-抽穗期>播种-拔节期>抽穗-开花期。各生育期性状在杂种早期世代(F2、F3)具较高遗传力。单株产量与开花-成熟期正相关,与拔节-开花期负相关,与全生育期相关不显著。对开花-成熟期正向选择,拔节-开花期负向选择,产量可获较大遗传改进。     

玉米对青枯病抗性遗传规律的研究

作者在玉米对青枯病抗性鉴定的基础上,选用6个抗性不同的自交系,按完全双列杂交设计,进行了玉米对肿囊腐霉菌(Pythium inflatum Matthews )青枯病的抗性遗传研究。首次证明:玉米对肿囊腐霉菌青枯病的遗传方式因自交系而异, 有的自交系具数量性状遗传特点,有的则具质量性状遗传特点。属数量性状遗传的自交系,其抗性主要是受加性基因控制。 Abstract:Based on the identification of resistance,six inbreds with defferent degrees of resistance were used in the inheritance experiment dexigned by a complete diallel cross.Genetic study on maize resistance to Pythium inflatum Matthews was carried out.The results showed for the first time that different maize inbreds may have different genetic patterns in resistance to Pythium inflatum Matthews.Some inbreds showed characteristics of quantitative inheritance,while some inbreds showed characteristics of qualitative inheritance.Resistance based on quantitative inheritance was mainly controlled by additive genes.