套餐名称	市场价	现价
Prader Willi综合征单亲双体分析	￥ 3240	￥ 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.