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：通過RFLP及微衛(wèi)星多態(tài)性分析日韩毛片免费高清在线视频，應(yīng)用兩位點(diǎn)及多位點(diǎn)連鎖軟件，建立了中國人WD基因在D13q14.2-3區(qū)域的精細(xì)遺傳連鎖圖譜，從而首次對(duì)中國人WD基因進(jìn)行了精確定位；②WD基因突變研究：應(yīng)用PCR-SSCP及DNA測序技術(shù)在线免费观看欧美性爱，對(duì)39個(gè)家系45名WD患者進(jìn)行該致病基因的21個(gè)外顯子突變篩選，發(fā)現(xiàn)WD基因5號(hào)外顯子存在新的T插入突變我色国产综合，并證實(shí)中國人WD基因的突變熱點(diǎn)為8號(hào)外顯子日韩欧美一区二区在线，突變形式為Arg778Leu，其頻率為22.8%草草九视频在线观看；③WD的癥狀前診斷和雜合子檢出：應(yīng)用DNA重組技術(shù)對(duì)79個(gè)家系進(jìn)行基因診斷911视频黄色，成功地進(jìn)行了WD的癥狀前診斷和雜合子檢出，并建立了WD的基因篩選的PCR-Msp 1酶切方法亚洲av试看。

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.

臨床試驗(yàn)中，在人類將是非常困難的国产一级91无码乱码电影，但是国产迷奷高潮A片XXXX，由于審判需要許多與會(huì)者并沒有簡單的方法來評(píng)分效力的presymptomatic藥物，博士bezprozvanny說色色五月天激情五月天。

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%.

共檢出8例癥狀前患者黄色网站免费看黄色网站免费看黄色网站免费，10例致病基因攜帶者及15例正常人，3例未能確定黄色在线视频一区，基因診斷率達(dá)91.67%伊人国产在线视频。

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.

結(jié)果 3例癥狀前期患兒未出現(xiàn)異常；28例有癥狀患兒中23例(82%)臨床癥狀基本消失或明顯好轉(zhuǎn)国产第一次玩3p大全视频，2例(7%)無改善91在线免费a，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%.

共檢出8例癥狀前患者欧美老妇与老头性交，10例基因攜帶者及14例正常人久久免费视频三级片，4例未能確定，基因診斷率達(dá)88.87%欧美日韩国产99。

presymptomatic：癥狀發(fā)生前的

presuppression 預(yù)抑制 | presymptomatic 癥狀發(fā)生前的 | presynapsis 前聯(lián)會(huì)

presymptomatic diagnosis：癥狀前診斷

基因診斷 gene diagnosis | 癥狀前診斷 presymptomatic diagnosis | 單卵雙生 monozygotic twins,identical twins