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作者用DMD/BMD基因位点内部DNA探针PERT87系列及XJ2.3和侧翼连锁探针754对一个Becker型肌营养不良症家系进行了RFLP单体型连锁分析,结果发现该家系三个同胞患儿携带致病基因的那条X染色体来自他们表型正常的外祖父。椐此推论,患儿外祖父在其精子发生中产生了一次EMD位点的基因突变,通过患儿母亲将BMD致病基因传递到患儿这一代,因此,患儿姨母携带致病基因的风险仅相当于该位点的自然突变率。研究结果表明,RFLP单体型连锁分析有助于追溯到BMD家系中突变基因的起源,从而对这些家系的遗传分析起重要的指导作用。 相似文献
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应用微卫星多态位点对X连锁型视网膜色素变性疾病进行遗传连锁分析的研究 总被引:2,自引:0,他引:2
目的应用遗传连锁分析方法对X连锁型视网膜色素变性家系进行分析,确定其致病基因的所在位点。方法在2个目前常见的X-连锁遗传位点——RP2和RP3处分别选取具有高信息量的微卫星位标,对2例疑似X连锁型视网膜色素变性家系进行遗传连锁分析。通过对家系成员的单倍型分析,并使用两点法计算其最大优势时数(LOD Score)值,确定致病基因所在的染色体位置。结果微卫星标记DXS993与2例遗传家系表型间最大LOD值分别为:〈-2和0.8;DXS 1068在2例遗传家系LOD值分别为0.4和0.8。结论RP2基因可能不是XY家系的致病性基因;在ZLK家系,怀疑疾病位点与RP2或RP3基因连锁。用遗传连锁分析方法确定致病基因所在染色体的范围起到重要的作用。 相似文献
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目的对一个疑似X连锁型视网膜色素变性(X-linked retinitis pigmentosa,XLRP)家系进行分析,确定其致病基因的所在位点。方法选取已知XLRP候选基因附近的微卫星位标,用多点参数分析方法计算其最大优势对数值(LOD score),并通过对家系成员单倍型分析,确定该家系致病基因所在的染色体位置。结果位于X染色体长臂的微卫星标记DXS8043与该例遗传家系间最大LOD值小于-2,其他位于X染色体短臂的11个微卫星标记与该例遗传家系LOD值保持在0.5上下,无明显的高值。单倍型结果表明该家系中2例患者兄弟(Ⅲ1、Ⅲ6)和他们的携带者母亲(Ⅱ2)在DXS8051与DXS1214之间拥有在正常成员中不存在的基因型,表明该基因型与疾病共分离,进一步确定了他们X性连锁遗传模式,并且可将致病基因初步定位于DXS8051与DXS1214之间的RP23和RP6基因。结论可以排除该例家系的致病位点与X染色体长臂上的RP24基因的连锁,高度怀疑连锁位点存在于X染色体的短臂的RP23和RP6基因,需另增加位标的信息量,以进一步缩小致病基因所在的具体范围。 相似文献
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目的:为寻找DMD家系中与致病基因紧密连锁的多态性DNA标记,以检出女性携带者及实施基因诊断。方法:应用四种DMD基因内及旁侧紧密连锁的DNA探针(P~ERT87-15、P~ERT87-8、XJ23、C7)对四个DMD家系进行了七种RFLPS连锁分析(包括4名肯定携带者和3名可能携带者)。结果:所有肯定携带者和可能携带者均被检出,且对患者进行了基因诊断。结论:提示选择多个探针联合应用RFLPs方法对DMD患者及女性携带者具有较高诊断价值。 相似文献
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目的 建立一种微卫星多态性检测法对马凡综合征(MFS)家系成员进行原纤蛋白 - 1基因 (FBN1 )单倍型分离分析 ,探讨 FBN1微卫星检测对 MFS症状前诊断的应用价值。 方法 从 4个 MFS家系及 4 0名正常人外周血中提取基因组 DNA,应用 1 5号染色体 FBN1基因侧翼区的 4个微卫星 (m ts- 1~ 4 )为遗传标记 ,以荧光标记引物的聚合酶链反应 (PCR)扩增目的 DNA片段 ,PCR产物用毛细管电泳技术(Capillary Electrophoresis)分析并计算其碱基数 ,对这 4个MFS家系及 4 0名正常人进行单倍型分离分析 (Haplotype-Segregation Analysis)。 结果 毛细管电泳技术检测 FBN1微卫星方法简便稳定 ,重复性好。 4 0名正常人 80条染色体等位基因片段大小与国外报道有一定差异 ;4个 MFS家系致病基因分别与 m ts- 1~ 4的 8/ 7/ 3/ 1 5 ,7/ 6 / 3/ 1 4 ,7/ 7/ 3/ 1 0和 1 3/ 7/ 3/ 1 0单倍型连锁 ,单倍型分离分析结果与家系中患者的临床表型一致。 结论 (1 )本研究建立的荧光 PCR-毛细管电泳 mts- 1~ 4检测技术灵敏度高 ,重复性好 ,较为简便、高效 ,是协助诊断 MFS的方法 ,便于临床实验室使用。(2 )对 4 0名正常人 80条染色体的检测显示 ,位于 FBN1基因内含子的 4个微卫星标记 m ts- 1~ 4的等位基因片段大小与国外报道有一定 相似文献
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目的 对1例毛囊闭锁三联征家系进行连锁分析精细定位研究,确定其致病基因位点.方法 应用覆盖1号染色体1p21.1~1q25.3区域的17个微卫星标记对该家系进行基因分型、连锁分析和单倍型分析.结果 在1号染色体上的微卫星标记DIS2 707处获得最大LOD值为2.11(重组率θ=0.00).通过单倍型分析将该家系致病基因定位在微卫星标记D1S2 715和D1S484之间的染色体1q21.3~1q23.2区域.结论 该研究提示1p21.1~1q25.3(61.8cM)是毛囊闭锁三联征致病基因连锁区域,并将致病基因支持连锁范围缩小至1q21.3~1q23.2(9.8 cM)区域. 相似文献
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目的: 对一个常染色体显性遗传扩张型心肌病(familial dilated cardiomyopathy,FDCM)家系进行基因定位。方法: 收集FDCM 家系, 对该家系成员进行详细心血管内科检查确诊为扩张型心肌病,且伴发有传导功能障碍;采集外周血3~5 mL,并抽提基因组DNA;选取与该表型相关的已定位区间CMD1A(1q21.2-q21.3),CMD1H(2q14-q22), CMD1E(3p22-p25)和CMD1F(6q22-23)内的共计18个微卫星DNA标记,在该家系中进行排除性定位分析;最后,进行全基因组扫描及连锁分析。结果:①已定位区间的18个微卫星DNA标记位点的LOD值均<-2,证实该家系与已知DCM位点不连锁;②全基因组扫描及两点连锁分析结果显示,该家系致病基因位点与遗传标记D3S1614(3q26)连锁, 在θ= 0时得到最大LOD值2.68。结论: 该家系与已知的4个DCM位点均不连锁,其致病基因位于D3S1614(3q26)附近的一个新位点。 相似文献
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目的:对一个常染色显性遗传性视网膜色素变性(autosomal dominant retinitis pigmentosa,ADRP)大家系进行基因定位。方法:收集ADRP家系,对该家系成员进行详细眼科检查确诊为视网膜色素变性(retinitis pigmentosa,RP),采集外周血3-5ml并抽提DNA;采用多个已知遗传标记与该家系致病基因位点进行连锁分析。结果:两点连锁结果显示该家系致病基因位点与遗传标记1D3S1292连锁,在θ=0.1时得到最大LOD分数2.73。结论:由于D3S1292位于3号染色体长臂21区(3q21),从而将该家系致病基因位点大致定位于3q21附近。 相似文献
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目的 了解代谢型谷氨酸受体mGlu2受体(mGluR2)基因、mGlu3受体(mGluR3)基因等与强迫谱系障碍(OCSDs)的连锁关系.方法 选取一个连续三代发病的强迫谱系障碍家系,采集到该家系中12个正常个体,8个受累个体的血样,选取mGluR2、mGluR3基因附近7对微卫星标记引物,采用两点和多点非参数分析的方法对该家系进行连锁分析.结果 7对微卫星标记位点的两点和多点非参数分析LOD值(NPL值),位于mGluR3基因附近的标记D7S644两点非参数分析NPL值为1.719(P=0.078),多点非参数分析NPL值为1.712(P=0.078),达到验证性连锁的阈值(NPL=1.2),但未达到提示性连锁的阈值(NPL=2.2),D7S2481两点非参数分析NPL值为0.628(P=0.179),多点非参数分析NPL值为0.852(P=0.141),接近验证性连锁的阈值,其余5对微卫星标记位点非参数分析NPL值均未达到验证性连锁的阈值.结论 提示mGluR3基因与OCSDs可能存在连锁关系,不能排除mGluR2基因与OCSDs的相关性. 相似文献
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Tao Ye * Zhi-quan Liu Jian-jun Mu Xi-han Fu Jun Yang Bao-lin Gao and Xiao-hong Zhang Department of Cardiology First Hospital of Xi'an Jiaotong University Xi'an Hanzhong Cardiovascular Institute Hanzhong 《中国医学科学杂志(英文版)》2004,19(4):248-251
Objective To observe blood pressure change with age in salt-sensitive teenagers whose salt sensitivity were determined by repeated testing.Methods Salt sensitivity was determined through intravenous infusion of normal saline combined with volume-depletion by oral diuretic furosemide in 55 teenagers. After five years, salt sensitivity was re-examined and subject blood pressure was followed up. Blood pressure changes in salt-sensitive teenagers were compared to that of non-salt sensitive teenagers over five years.Results After 5 years, the repetition rate of salt sensitivity determined by intravenous saline loading is 92.7%. In teenagers with salt sensitivity on the baseline, both the systolic blood pressure increments and increment rates were much higher than non-salt sensitive teenagers (12.7±12.1 mmHg vs. 2.8±5.2 mmHg, P< 0.01; 12.2%± 12.0% vs. 2.5% ±4.4%, P< 0.001,respectively). There was a similar trend for diastolic blood pressure (8.4 ± 6.4 mmHg vs. 3.7 ± 6.4 mmHg, P = 0.052; 13.2% ±10.6 % vs. 6.8%± 10.1%, P = 0.053, respectively).Conclusions Salt sensitivity determined by intravenous saline loading showed good reproducibility. Blood pressure increments with age were much higher in salt-sensitive teenagers than non-salt sensitive teenagers, especially in terms of systolic blood pressure. 相似文献
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Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P < 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (>0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P <0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P < 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD. 相似文献
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Jiageng Zhu Jun Li Ruipeng Ji Jianghao Su Mingshun Shen Zhigang Cao 《南京医科大学学报(自然科学版)》2007,21(2):125-128
Objective: To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods: SD rats served as both donors and recipients. 4℃ sodium lactate Ringer's was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava (IVC) inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results: Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion: This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment. 相似文献
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Increasing maternal age is the only etiological factor unequivocally linked to Down's syndrome in humans. The occurrence rate of newborns with Down's syndrome is about 1/220 in women over 35 years old. However, the occurrence rate in embryos fertilized in vitro, of the elder woman is unclear. Using FISH we screened the number of chromosome 21 in preimplanted embryos of 5 elderly women (average age, 38.4 years) to study the feasibility and necessity of screening trisomy 21 in embryos in patients over 35 years old at the in vitro fertilization (IVF) center. 相似文献
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Real-time three-dimensional echocardiography (RT3DE)is a new ultrasound technique that enables dynamic threedimensional visualization and quantification of the heart in real time. Investigation of feasibility and methodology of RT3DE in determining left ventricular (LV) and right ventricular (RV) volumes, RT3DE was performed in 35 normal adults using Philips SONOS 7500 system with a 2-4 MHz matrix array transducer. The 60°×60° "pyramid" volume database was obtained and analyzed on a TomTec echo workstation. Both LV and RV volumes were calculated with four 3DE methods (i.e. apical 2, 4, 8, and 16-plane) through manually tracing ventricular endocardial borders in end diastole and end systole. Stroke volumes were then calculated. LV volume was also measured by 2DE Simpson's rule using GE VIVID 7 ultrasound machine. 相似文献
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Scientific principles and rigorous processes should be followed in developing clinical guidelines for therapeutic interventions of integrative medicine 下载免费PDF全文
A clinical guideline for the therapeutic interventions of integrative medicine may be defined as a written document which states a series of recommendations on therapeutic interventions of integrative medicine for a special disease or condition. The guideline may provide assistance to medical professionals in making clinical decisions aimed at improving the clinical outcome of patients and reducing the costs of medical care(~'4~. Recommendations issued by a guideline should be based on the best available evidence in both Western and Chinese medicine. For fulfilling this purpose, the development of clinical guidelines for therapeutic interventions in the field of integrative medicine should follow scientific principles and undergo a rigorous processes. 相似文献
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Objective:To probe into the influence of changes of ovarian hormones on the pathogenesis of the specific sub-type premenstrual syndrome(PMS)and reveal partial microcosmic mechanisms of adverse flow of liver-qi.Methods:Estradiol(E2)and progesterone(P)levels in serum were determined at different phases of menstrual cycle by radioimmunoassay.Results:In the group of PMS with adverse flow of liver-qi.the secretive peak value Of E2 and P at the follicular phase significantly decreased,and the secretive peak value at the luteal phase did not come into being.Conclusions:Low E2 and P secretive peak at the follicular phase and absence of secretive peak at the luteal phase is one of the microcosmic mechanisms of PMS with adverse flow of liver-qi.One of the pathophysiologic mechanisms of specific sub-type PMS is probably the continuous low level of E2and P. 相似文献
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Journal of Nanjing Medical University 《南京医科大学学报(英文版)》2007,21(1):I0001-I0002,F0003
Journal of Nanjing Medical University (English Edition) JNMU, sponsored by Nanjing Medical University, was established in 1987. It is a bimonthly comprehensive English medical journal published locally and abroad.Since 2007, Journal of Nanjing Medical University (English Edition )was granted Elsevier the full publishing and distribution rights worldwide for the Electronic Edition, excluding the People's Republic of China. 相似文献
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Objective To measure Derpl and Blot5 allergen levels in asthmatics' homes in Hongkong.Methods Seventy houses were enrolled for a mite indoor environment study. Dust samples were obtained from two sites of each patients' house: bed and floor. Derpl and Blot5 levels were quantified by a two-site monoclonal antibody-based ELISA technique.Results The levels of Derpl allergens found in bed (geometric mean (GM) 3.43 μg/g of dust; 95%CI, 1.89-4.96 μg/g)and on the floor (GM 1.12 μg/g of dust; 95%CI, 0.71-1.53 μg/g) indicated significant differences (P=0.005). However, the levels of Blot5 allergens found in bed (GM 19.00 μg/g of dust; 95%CI, 0.89-38.90 μg/g) and on the floor (GM 6.14 μg/g of dust; 95%CI, 0.40-11.90 μg/g) showed no statistically significant difference. In addition, in regards to the exposure index for Derpl and Blot5 allergens found in bed and on the floor, 17.6% in bed and 8.6% on the floor had levels of Blot5 ≥ 10 μg/g of dust, higher than those obtained for Derp1 (7.2% and 0% in bed and on the floor respectively, P< 0.05); higher percentages in bed and on the floor (25.0% and 35.7%) were observed for levels of Blot5 =0 μg/g of dust as compared with Derpl in bed and on the floor (4.3% and 14.5% respectively, P< 0.05).Conclusions Derpl and Blot5 are the major allergens found in this regional study, Blot5 is a more potent allergen in Hongkong, probably reflecting the high level of exposure to Blomia tropicalis (Bt). Bt and Dermatophagoides pteronyssinus (Dp) allergens should be included for precise diagnosis and effective immuno-therapeutic treatment of mite allergy in Hongkong. 相似文献
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Objcetive To investigate the anti-proliferation effect of oridonin on leukemic HL-60 cells and its mechanism. Methods HL-60 cells in vitro in culture medium were given different concentrations of oridonin. The inhibitory rate of cells were measured by microculture tetrazolium (MTT) assay, cell apoptotic rate was detected by flow cytometry (FCM), morphology of cell apoptosis was observed by hoechst 33258 fluorescence staining, and the activity of telomerase was detected using telomere repeat amplification protocol (TRAP) PCR-ELISA before and after apoptosis occurred. Results Oridonin could decrease telomerase activity, inhibit growth of HL-60 cells, and cause apoptosis significantly. The suppression was both in time- and dose-dependent manner. Marked morphological changes of cell apoptosis including condensation of chromatin and nuclear fragmentation were observed clearly by hoechst 33258 fluorescence staining especially after cells were treated 48-60 hours by oridonin. Conclusions Oridonin has apparent anti-proliferation and apoptotic effects on HL-60 cells in vitro, decreasing telomerase activity of HL-60 cells may be one of its most important mechanisms. These results will provide strong laboratory evidence of oridonin for clinical treatment of acute leukemia. 相似文献