查询词典 presymptomatic

①Location of WD gene in Ch inese: Using pairwise linkage analysis and multipoint linkage analysis method, w e constructed a genetic map of DNA markers within D13q14.2-3 which refined the location of WD gene by restriction fragment length polymorphism and microsatellite polymorphism analysis;②Screen for mutations of WD gene in Chinese people: we detected the structure of 21 exons of WD ge ne in 45 patients from 39 pedigrees by PCR-SSCP(Single strand conformation poly morphism) and PCR-DNA sequencing technology, found a new mutation in exon 5 and nuclcotide sequence analysis showed it is a T insertion. We also conformed the Arg778Leu in exon 8, the highest frequence mutation point in Chinese people, wit h mutation rate 22.8%in total;③Carrier detection and presymptomatic diagnosi s of WD: Based on DNA recombination technology, we peformed successfully the gen e diagnosis in all individuals of 79 families with WD and built up a helpful spe cific enzyme cut method (PCR-Msp1) to detect the carrier and presympomatic patients in Chinese pe ople with WD.

①WD的基因定位研究：通过RFLP及微卫星多态性分析，应用两位点及多位点连锁软件，建立了中国人WD基因在D13q14.2-3区域的精细遗传连锁图谱，从而首次对中国人WD基因进行了精确定位；②WD基因突变研究：应用PCR-SSCP及DNA测序技术，对39个家系45名WD患者进行该致病基因的21个外显子突变筛选，发现WD基因5号外显子存在新的T插入突变，并证实中国人WD基因的突变热点为8号外显子，突变形式为Arg778Leu，其频率为22.8%；③WD的症状前诊断和杂合子检出：应用DNA重组技术对79个家系进行基因诊断，成功地进行了WD的症状前诊断和杂合子检出，并建立了WD的基因筛选的PCR-Msp 1酶切方法。

Clinical trials in humans would be very difficult, however, because trials require many participants and there is no easy way to score effectiveness of a presymptomatic drug, Dr.

临床试验中，在人类将是非常困难的，但是，由于审判需要许多与会者并没有简单的方法来评分效力的presymptomatic药物，博士bezprozvanny说。

In 109 individuals of 19 WD families, we found 8 presymptomatic patients, 10 carriers and 15 normal people, 3 could not be determined. The rate of gene diagnosis was 91.67%.

共检出8例症状前患者，10例致病基因携带者及15例正常人，3例未能确定，基因诊断率达91.67%。

Results In 3 presymptomatic patients, no clinical abnormalities were found. Among 28 patients with symptoms, 23 patients (82%) had their symptoms and signs subsided or much improved, 2 patients(7%) remained unchanged, and 3(11%) died.

结果 3例症状前期患儿未出现异常；28例有症状患儿中23例(82%)临床症状基本消失或明显好转，2例(7%)无改善，3例(11%)死亡。

In 109 individuals of 19 WD families,we founded 8 presymptomatic patients,10 carriers,14 normal people,4 could not determined,the rate of gene diagnosis was 88.87%.

共检出8例症状前患者，10例基因携带者及14例正常人，4例未能确定，基因诊断率达88.87%。

If these people are not immunized, and think that they could protect patients by simply not coming in to work if they are sick, they could spread influenza to patients during the presymptomatic phase of their illness.

如果这些人不接种疫苗，认为他们如果生病了只要不去上班就可保护患者不被感染，那么他们很可能在疾病症状发作前期就已经将流感传染给了患者。

To date, germ-line genetic testing has become the basis for therapeutic decisions in MEN 2 affected patients and can facilitate the early presymptomatic detections of gene carriers.

所以，我们的分析结果显示，所有的MTC患者都应该接受RET原致癌基因的筛检，以便利用分子生物检验法来侦测潜在或de novo的MEN 2或家族性MTC。

Presymptomatic genetic screening : Presymptomatic genetic screening may be appropriate for persons with a family history of a dominantly inherited disorder （eg, Huntington's disease, breast cancer）.

症状前遗传筛查适用于家族史中有显性遗传病的人（如遗传性舞蹈病，乳腺癌）。

Presymptomatic genetic screening : Presymptomatic genetic screening may be a ropriate for perso with a family history of a dominantly inherited disorder （eg, Huntington's disease, breast cancer）.

症状前遗传筛查适用于家族史中有显性遗传病的人（如遗传性舞蹈病，乳腺癌）。

Objective: Presymptomatic gene diagnosis of autosomal dominant polycystic kidney disease families by PCR Methods: Genomic DNA were extracted Highly polymorphic microsatellite markers(SM7, AG2 5, KG8, CW2) linked to the PKD1were amplified using PCR Ten ADPKD families (104 members,including 28 affected) were analysed Results: Nine children were diagnosed with presymptomatic gene diagnosis ,although all children presented a negative ultrasonic diagnosis Conclusion: The presymptomatic gene diagnosis ...

目的：应用PCR方法对常染色体显性遗传性多囊肾病家系进行症前基因诊断。方法：用PCR扩增与PKD1位点连锁的的高度多态性的微小卫星体DNA（SM7，AC2.5，KG8，CW2）为遗传标记，对10个ADPKD家系的104个成员（包括28个患者）找出染色体上与疾病连锁的单体型，进行连锁分析。结果：对9个无临床症状，且B超检查呈阴性结果的儿童做出了症前基因诊断。结论：能够应用PCR方法对ADP－KD家系成员快速、准确地做出基因诊断

With Death guitarist Schuldiner adopting vocal duties, the band made a major impact on the scene.

随着死亡的吉他手Schuldiner接受主唱的职务，乐队在现实中树立了重要的影响。

But he could still end up breakfasting on Swiss-government issue muesli because all six are accused of nicking around 45 million pounds they should have paid to FIFA.

不过他最后仍有可能沦为瑞士政府&议事餐桌&上的一道早餐，因为这所有六个人都被指控把本应支付给国际足联的大约4500万英镑骗了个精光。