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1.
为寻找适于中国人Wilson氏病(WD)基因连锁分析的遗传标记及制定WD基因所在区域的遗传图谱,我们应用D13q14-21区域4个DNA标记对75名无亲缘关系个体及9个WD家系成品进行连锁分析。结果发现4个DNA标记中3个标记等位片段与白种人相同而杂合率相异,其中2个DNA标记D13S31,P123M1.8与WD基因存在紧密连锁关系。其遗传顺序为:着丝点-Rb-D13S31-WND。 相似文献
2.
用P^68RS2.0标记多态性对Wilson病的早期诊断及杂合子检测 总被引:1,自引:1,他引:0
本研究结合临床铜生化检测结果,应用分子生物学技术对6个Wilson'sdisease家系进行检测在13名同胞中共检出2名WD症状前患者,6名杂合子及1名正常人,另4名无检测意义。 相似文献
3.
对64例鼻咽部活检组织标本进行EB病毒(EBV)特异性基因片段[DNA酶、核抗原-1(NA-1)]的PCR扩增,该结果与血清抗EBV-DNA酶抗体(EBV-DNaseantibody,EDAb)及初次细胞病理学结果对照,上述3种检测方法检出的阳性质例分别为:DNA酶基因40例(NA-1基因41例),EDAb37例,初次病理35例,x2检验表明3种检测方法结果相符。对DNA酶基因和NA-1基因扩增阳性而初次病理阴性(诊断为慢性炎症)的8例中的6例(另2例因故未检)进行第2次活检,有5例病理确诊为原位低分化鳞癌。另对42例头颈部肿大淋巴结的活检组织进行了上述基因片段的扩增,其中病理诊断为转移性低分化鳞癌的10例中有6例为基因片段扩增阳性,该6例中4例后来在鼻咽部发现原发灶(2例为粘膜下型)。 相似文献
4.
肝豆状核变性基因诊断的研究 总被引:1,自引:0,他引:1
肝豆状核变性又称Wilson氏病(WD),是一种较常见的以铜代谢障碍为特征常染色体隐性遗传病。其致病基因已定于D1 3q 14.2-3。应用两个与WD基因紧密连锁的侧翼标记对9个WD家系进行单倍体检测,证实该单倍体可用于该病的症状前诊断和杂合子检出。 相似文献
5.
目的:探讨与多囊肾病基因位点1(PKD1)连锁的两个微卫星KG8和CW2在汉族及壮族人群中的多态性及其等位基因频率是否存在群体差异。方法:用聚合酶链反应(PCR)扩增与PKD1连锁的两个微卫星,100g/L(10%)非变性聚丙烯酰胺凝胶电泳检测PCR产物。结果:CW2在汉族和壮族人群中均高度多态,而KG8多态性程度较低;2个KG8等位基因的频率及4个CW2等位基因的频率存在群体差异。结论:CW2可用于汉、壮族人PKD1基因诊断。同时,这两个微卫星的等位基因频率分布具有群体差异,在应用它们进行基因诊断和疾病关联性研究时应引起注意。 相似文献
6.
目的:探讨多巴胺D_2受体基因多态与精神分裂症的关系。方法:运用人为介入内切酶位点的PCR技术,对105名精神分裂症患者及108名对照成员进行多巴胺D_2受体(DRD2)基因第3ll密码子Ser311→Cys3ll错义突变检测。结果:Ser3ll/Cys3ll基因型在患病组和对照组中出现比例经统计学检验无显著差异,Ser311/Cys311占低发病年龄组和有家族史组的比例略高于对照组。结论:DRD2基因结构多态性可能与精神分裂症某些亚型相关。 相似文献
7.
本文对208例常见肝肿瘤(肝癌100例,血管瘤62例,肝囊肿46例)的磁共振(MRI)表现进行病变形态学和信号强度分析。T1W图象上,3种肿瘤多为偏低信号强度;T2W图象上表现为中高信号强度影。利用多回波序列扫描,观察到TE=20~40ms时,肝囊肿的信号强度低于肝癌和肝血管瘤:TE=80ms以上时,肝癌的信号强度明显低于其它2种病变。Gd-DTPA增强后,各自也有不同的强化形式,为肝脏肿瘤提供了又一有效的影像方法。本研究认为常规扫描自旋回波T1W和含有2个回波的T2W序列基本上可满足肝脏病变的诊断要求。建议T2W的2个回波时间TE为30ms,120ms。如常规扫描上述序列仍不能确定诊断,可作多回波序列、T2W脂肪压抑或T1增强等进一步检查。 相似文献
8.
肝豆状核变性基因12号外显子突变特征的研究 总被引:11,自引:1,他引:10
目的 研究中国人肝豆状核变性(WD)基因12号外显子的突变特征,为建立直接基因诊断的方法提供理论依据。方法 应用聚合酶链反应-单链构象多态(PCR-SSCP)技术,对44例无亲缘关系的确诊患者和60名正常对照组进行WD基因第12号外显子的突变检测,并用DNA测序证实其突变性质和位置。结果 8例患者在12号外显子检测到2种错义突变,占18%(8/44),其中6例为Thr935Met突变,2例为Gly 相似文献
9.
利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对83名正常中国人CYP2D6基因的第1号和第9号外显子的多态性做了分析。结果发现,在CYP2D6基因的第188位点C→T的频率为0.59,第4268位点G→C的频率为0.66,而且T188/T188纯合子及C4268/C4268纯合子的比率分别为0.38和0.34。与国外报道比较,发现中国人CYP2D6基因的这2个位点的多态性分布规律与西方人有明显的不同。这可能有助于解释中国人在药物代谢及某些疾病(如帕金森病等)的易感性方面与西方人的差异。 相似文献
10.
本工作应用热激蛋白70KD核酸分子杂交方法,检测了:(1)自发性高血压主动脉和离体培养的主动脉平滑肌细胞受热激后hsp 70mRNA水平的变化;(2)不同细胞培养时间的SHR、WKY主动脉hsp 70mRNA水平。结果提示SHR主动脉hsp mRNA水平增加,SHR细胞培养受热激后2h,hsp 70mRNA水平明显高于WKY鼠者,6周较3个月的SHR细胞hsp 70mRNA水平高;6个月的SHR细 相似文献
11.
Sun Yi-ping孙逸平 s An Jia-bin安家宾 Li Shi-tai李世泰Li Hong-jiong李洪迥 Chen Wei-chang陈帷昌 Lin Ling林玲带Xu Lin-min徐林敏 Lu Li-yan吕立岩 Yang Qi-sheng杨启生豢Zhang Xin-gen张新根 Zhao Guang赵广” John Lee 《中华医学杂志(英文版)》1987,100(3):236-241
Tissue typing was performed on lymphocytes of
74 unrelated patients and 12 families with multiple
affected siblings. HLA-B13, Aw19, B17 (Bw57),
Cwl, DRl were found increased. The analysis of
haplotype showed that one or two haplotype sharing
among affected siblings occurred more frequently
than expected (p<0.0001). The result of lods score
for 4 families was l.940. These findings suggest that
there may be at least one disease gene linked with
MHC involved in this disease. 相似文献
12.
Wang De-fen王德芬 Zhao Ke-wei赵克维 Zeng Ji-Sheng曾几生 Li Li-qun李立群 Sun Yue-xia孙月霞 Gao Qi-zhen高祈珍Shanghai Second Medical University Shanghai 《中华医学杂志(英文版)》1988,101(11):793-797
Two male siblings and one female from two
unrelated families were affected by late infantile
metachromatic leukodystrophy (MLD) with similar
clinical manifestations. Ary:sulfatase A (ASA) activi-
ties in dialyzed urines and in leukocytes were deter
mined.
Urinary ASA activities of patients at a pH opti-
mum of 5.0 were below the lower limit of the nor
mals, but increased when assays were carried out
at pH 5.6, while it fell in normals or non-MLD pa
tients with a rise in pH.
Leukocyte ASA activities in a proband were also
below the lower limit of normal controls.
Urinary ASA activities of 3 0f 4 parents were
normal. Leukocyte ASA activities in all of the
parents were intermediate between those of the pro
bands and those of normal controls.
Urinary ASA determination might be used as
a screening test for MLD patients but not reliable
for heterozygote detection. The confirmation of the
diagnosis should rely upon leukocyte or fibroblastic
ASA determination. 相似文献
13.
目的:探讨促红细胞生成素干预对食管癌放疗疗效的影响情况。方法:2000年7月至2001年02月,S4例经病理证实的中晚期食管癌接受放射治疗的病例。治疗前血红蛋白浓度均小于100g/1.随机分成两组。一组为对照组。一组为治疗组。两组均采用6MV或者18MVX射线放射治疗,食管癌原发灶剂量60∽68Gy,区域淋巴结剂量50∽60Gy。对照组放疗过程中予以支持治疗。而干预组除支持治疗外。每周注射促红细胞生成索.3000IU/次,2/周。同时口服铁剂。放射治疗前、后均测定血红蛋白量。两组病例合并行影响生存时间因素的COX回归分析;对比两组局部控制率和生存率的差别。结果:病变大小、血红蛋白水平为生存时间的影响因素;干预组的局部控制时间与生存时间优于对照组。结论:促红索的使用有益于食管癌放疗患者血红蛋白水平的提升,从而改善其局部控制率和生存率。升高可使食管癌的局部控制率及远期生存率提高。 相似文献
14.
本文对一例额外小染色体(两臂末端,存在随体区)携带者及其同胞兄妹的中期染色体进行了银染核仁组织区(Ag-NOR)和银染近端着丝粒染色体联合(Ag-AA)分析。结果表明:(1)额外小染色体(E.S.C)携带者的Ag-AA与同胞(无E.S.C)间无显著性差异(P>0.25);(2)E.S.C携带者的Ag-NOR阳性率显著高于其同胞兄妹(P<0.025);(3)若不计数ESC的Ag-NOR阳性率或仅计数其任何一端,则与同胞间无显著性差异(P>0.25;P>0.5)。 相似文献
15.
目的 观察氯沙坦对老年高血压患者的临床疗效和安全性。方法40例老年高血压患者口服氯坦50mg或与双氢克尿塞25mg联合应用,疗程为6周。结果 降压总有效率为82.5%,服药6后,平均收缩压(SBP)及舒张压(DBP)分别下降19.1mmHg及11.3mmHg。24h动态血压监测显示氯沙能有效降低24h血压及昼夜血压均值,白昼与夜间降压幅度大致相等且不影响血压昼夜节律。治疗前后的24h心率也无显著变 相似文献
16.
All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third degree relatives were 1.53% (60/3927), 0.22% (25/11359), 0.30% (31/10296) respectively. In 17 cases, either of propositi's parents had cleft, the incidence of cleft among propositi's siblings was 9.52% (2/21). In 34 cases, the incidence of rest propositi's siblings beyond those whose one sib had cleft or more is 5% (4/80), whereas both their parents were normal. Based on above, all incidences of different order relatives were higher than population ones. Furthermore, it is demonstrable that the closer the consanguinity is, the higher the incidence is, and if there was cleft in one family, the incidence increased obviously among his siblings or children, revealing apparent family tendency. In this group, the heritability is 46.80%. 相似文献
17.
This paper presents 5 patients with repeated recurrence of osteoeareoma (RROS). The primary focus of 3 patients were in the distal portion of femur, and 2 patients were in the proximal portion of tibia. Three patients, whose chest X ray film were negative, were treated by amputation and chemotherapy. Two patients had isolated metastatic focus 1.5cm in diameter in lung, were treated by amputation after 1 week of chemotherapy and then treated by lobectomy after 2 weeks of chemotherapy. After operation, the chemotherapy was carried out for 3 courses of treatment. The roentgenogram of chest and affected limb were taken once every two months. There were metastatic focuses found in the lung of 1 patient and in the distal portion of femur of 2 patients. One patient was operated on for 4 times. Up to now, 3 patients havebeen living for 5 years and 2 patients for 6 years after operation. 相似文献
18.
采用敏感的白细胞介素6(IL6)依赖细胞株KD83增殖实验检测60例急性白血病(AL)患者血清IL6活性,同时用ELISA法测定相应患者血清肿瘤坏死因子(TNF)水平,发现AL患者血清IL6和TNF水平明显高于正常对照(P<0.01),并与白血病的分型有关。动态观察46例AL患者,发现疗效不同IL6和TNF的水平及变化情况也不同。本研究提示,IL6和TNF可能参与了AL的发病过程,测定AL患者血清IL6和TNF水平可能对病情监测和疗效判断有一定的参考价值。 相似文献
19.
C Zavala D Jiménez R Rubio M L Castillo-Sosa A Díaz-Arauzo F Salamanca 《Archives of medical research》1992,23(4):177-182
Parents (n = 355) and siblings (n = 313) of 185 index cases (IC) with congenital heart disease (CHD) were cardiologically evaluated. In the consecutive sample (2 years) Mendelian and chromosome syndromes were excluded. Four patients and nine siblings had CHD. The frequency of affection in siblings was 2.6% (8 in 313 siblings). All affected relatives are under medical care at the Centro Médico Nacional Siglo XXI, IMSS. In 10 of the 12 affected relatives found, the type of CHD was discordant from that of the IC. Discordance was found also in 9 of 36 IC with two or more CHD. An interpretation is given: if the mutated gene(s) has its effect in early embryological stages, affected relatives may have any type of CHD, but if the alteration occurs later, concordance is expected to be found. This model contributes also in explaining the remarkable genetic heterogeneity that exists in CHD. 相似文献
20.
舌鳞癌DNA倍体性和S期细胞比率与其预后关系 总被引:2,自引:0,他引:2
对72例舌鳞癌根治术后病者作随访复查和用流式细胞仪对其石蜡包埋标本作DNA含量测量。结果5年生存率为56.9%,5年内死亡者和5年存活者异倍体率分别为64.5%和41.5%(P>0.05),而高S期细胞比率(SPF)分别为90.3%和41.5%(P<0.01)。有颈淋巴转移者五年生存率(28.6%)低于无颈淋巴转移者(68.6%)(P<0.05)。两者异倍体率和高SPF分别有显著差异和非常显著差异。高SPF在临床期之间、C1和G2之间均有明显差异。提示DNA倍体性与舌鳞癌5年生存率无关,而高SPF则有密切关系。认为SPF作为估测舌鳞癌的预后有较高的价值。 相似文献