套餐名称: Prader Willi综合征单亲双体分析 连锁分析
检测机构: 哈密中天基因
套餐类别: 基因检测
适用人群:
套餐名称 | 市场价 | 现价 |
---|---|---|
Prader Willi综合征单亲双体分析 | ¥ 2928 |
项目名称:Prader Willi综合征单亲双体分析
检测类型:神经系统
遗传类型:基因测序
检测方法:连锁分析
样本类型:EDTA或枸橼酸盐抗凝外周血3-5ml
样本保存:室温:1周,冷藏:1月,冷冻:1年
优惠价格:2928
市场价格:3240
出报告时间:15 天
临床应用:Prader Willi综合征与天使综合征的诊断。
Prader Willi综合征单亲双体分析技术介绍
Prader-Willi Syndrome: A Genetic Analysis
1. Introduction
Prader-Willi Syndrome (PWS) is a genetic disorder characterized by growth deficiency, cognitive impairment, and hyperphagia leading to obesity. It\'s caused by the loss of expression or functional abnormalities in imprinted genes located on chromosome 15q11-q13.
2. Uniparental Disomy Analysis
Uniparental Disomy (UPD), where both copies of a specific chromosome are inherited from one parent instead of one copy each from parents, can be used as an analysis method for PWS. In UPD, paternal deletion results in Angelman syndrome while maternal deletion leads to Prader-Willi syndrome due to lack of paternally expressed gene(s).
3. Linkage Analysis
Linkage Analysis compares affected individuals\' DNA markers with unaffected relatives\'. It establishes the correlation between PWS phenotype and specific alleles on chromosome 15q11-q13. This method helps identify disease loci linked to certain genetic markers that may be involved in imprinting or expression regulation mechanisms causing PWS.
4. Conclusion
In conclusion, Uniparental Disomy analysis and Linkage Analysis are powerful tools for understanding the complex etiology behind Prader-Willi Syndrome. They help identify the underlying molecular mechanism of how parental origin affects gene function, which can lead to new therapeutic approaches targeting these pathways.
(现场加项、申请快递报告除外)
预约时间:为了保护您的隐私,需要至少提前1个工作日预约。
检测时间:工作日周一到周五8:00-17:00,来现场办理请出示预约信息,跟随工作人员办理。
检测地点:哈密中天基因
检测凭证:检测当天凭借预约信息,现场出示有效证件或预约短信即可检测,无需缴纳其他费用(现场加项或快递报告除外)
注意事项:当您预约套餐时,即表示接受工作人员采集或自行送检隐私样本。如因自身原因放弃检测套餐中的检查项目,网站将不予退款处理。
毛发样本采集方法
用手抓住毛发根部,迅速拔下3-5根毛发(毛发末端可以看到清晰的毛囊,即毛发根部白色物质)。
口腔拭子样本采集方法
将棉签在口腔内壁两侧反复摩擦10次,每人提取3根棉签,将成功采样的棉签自然阴干后包于纸巾内,然后装入对应的信封中,标记上样本所属人的身份和姓名。
血痕样本采集方法
采样时戴好手套,用酒精棉球擦拭被采样手指头部(建议选择无名指,疼痛感轻),待手指自然晾干后,用采血针轻刺指尖皮肤表面,待血液流出时,用准备好的纱布或采集卡轻轻擦拭,在其表面留下3-4个如黄豆大小的血迹即可,将采集好的血痕样本用白纸或者信封包好,标记上样本所属人的身份和姓名。