Early screening for colorectal cancer(CRC) holds the key to combat and control the increasing global burden of CRC morbidity and mortality. However, the current available screening modalities are severely inadequate b...Early screening for colorectal cancer(CRC) holds the key to combat and control the increasing global burden of CRC morbidity and mortality. However, the current available screening modalities are severely inadequate because of their high cost and cumbersome preparatory procedures that ultimately lead to a low participation rate. People simply do not like to have colonoscopies. It would be ideal, therefore, to develop an alternative modality based on blood biomarkers as the first line screening test. This will allow for the differentiation of the general population from high risk individuals. Colonoscopy would then become the secondary test, to further screen the high risk segment of the population. This will encourage participation and therefore help to reach the goal of early detection and thereby reduce the anticipated increasing global CRC incidence rate. A blood-based screening test is anappealing alternative as it is non-invasive and poses minimal risk to patients. It is easy to perform, can be repeated at shorter intervals, and therefore would likely lead to a much higher participation rate. This review surveys various blood-based test strategies currently under investigation, discusses the potency of what is available, and assesses how new technology may contribute to future test design.展开更多
目的对1例胎儿脐血DNA用跨越断裂点PCR技术（gap—PCR）检测DNA时罕见同时出现α2、右缺失（-α3．7）和东南亚缺失（southeast asian deletion，--SEA）的胎儿及其家系进行分析，探讨其基因变异的来源。方法1例24周龄的胎儿脐血DNA采用...目的对1例胎儿脐血DNA用跨越断裂点PCR技术（gap—PCR）检测DNA时罕见同时出现α2、右缺失（-α3．7）和东南亚缺失（southeast asian deletion，--SEA）的胎儿及其家系进行分析，探讨其基因变异的来源。方法1例24周龄的胎儿脐血DNA采用gap—PCR检测，采用巢式及单重PCR对胎儿及其父母、祖父母、外祖父母进行仅地中海贫血基因型分析，并进行红细胞参数分析、血红蛋白检测，反向斑点杂交技术诊断α地中海贫血点突变及β地中海贫血点突变，同时比较分析胎儿基因变异与家系关系。结果血液学表型分析显示，胎儿血红蛋白1链的四聚体（Hb Bart’s）含量为7．6％、母亲、外祖父均为典型的α地中海贫血。胎儿的父亲、祖父母、外祖母4人红细胞指数和血红蛋白无异常改变。胎儿为HKαα和东南亚缺失型杂合子，其父亲、祖父均为HKαα；其母亲、外祖父为东南亚杂合子；祖母、外祖母均未发现仪地中海贫血基因缺失。通过遗传咨询孕妇选择了保留胎儿。结论发现1例罕见的HKαα和--SEA的混合杂合子（HKaa／--SEA），成功保住胎儿。展开更多
基金Supported by The Valley Hospital Foundation Research FundThe community of The Valley Hospital in Ridgewood,NJ,especially Ms.Audrey Meyers,CEO,Mr.Anastasios Kozaitis,president of the Valley Hospital Foundation
文摘Early screening for colorectal cancer(CRC) holds the key to combat and control the increasing global burden of CRC morbidity and mortality. However, the current available screening modalities are severely inadequate because of their high cost and cumbersome preparatory procedures that ultimately lead to a low participation rate. People simply do not like to have colonoscopies. It would be ideal, therefore, to develop an alternative modality based on blood biomarkers as the first line screening test. This will allow for the differentiation of the general population from high risk individuals. Colonoscopy would then become the secondary test, to further screen the high risk segment of the population. This will encourage participation and therefore help to reach the goal of early detection and thereby reduce the anticipated increasing global CRC incidence rate. A blood-based screening test is anappealing alternative as it is non-invasive and poses minimal risk to patients. It is easy to perform, can be repeated at shorter intervals, and therefore would likely lead to a much higher participation rate. This review surveys various blood-based test strategies currently under investigation, discusses the potency of what is available, and assesses how new technology may contribute to future test design.
文摘目的对1例胎儿脐血DNA用跨越断裂点PCR技术（gap—PCR）检测DNA时罕见同时出现α2、右缺失（-α3．7）和东南亚缺失（southeast asian deletion，--SEA）的胎儿及其家系进行分析，探讨其基因变异的来源。方法1例24周龄的胎儿脐血DNA采用gap—PCR检测，采用巢式及单重PCR对胎儿及其父母、祖父母、外祖父母进行仅地中海贫血基因型分析，并进行红细胞参数分析、血红蛋白检测，反向斑点杂交技术诊断α地中海贫血点突变及β地中海贫血点突变，同时比较分析胎儿基因变异与家系关系。结果血液学表型分析显示，胎儿血红蛋白1链的四聚体（Hb Bart’s）含量为7．6％、母亲、外祖父均为典型的α地中海贫血。胎儿的父亲、祖父母、外祖母4人红细胞指数和血红蛋白无异常改变。胎儿为HKαα和东南亚缺失型杂合子，其父亲、祖父均为HKαα；其母亲、外祖父为东南亚杂合子；祖母、外祖母均未发现仪地中海贫血基因缺失。通过遗传咨询孕妇选择了保留胎儿。结论发现1例罕见的HKαα和--SEA的混合杂合子（HKaa／--SEA），成功保住胎儿。
