STR分子标记的个体识别及其临床应用

The individual identification and clinical application of STR

目的 :建立一种简便易行、灵敏特异而且无同位素污染的个体识别方法。方法 :采用STR系统HUMCSF1PO、HUMTPOX、HUMTH0 1三位点多重PCR并银染检测技术分析无关个体、两代三口人家系、异基因造血干细胞移植 (Allo HSCT)前后供受者、母婴及脐血的DNA表型特征。结果 :无关个体极易区别 ;两代三口人家系符合孟德尔遗传规律 ;5例Allo HSCT后受者嵌合状态均可检测 ,均表现为完全嵌合 ;脐血与相应新生儿带型完全相同 ;敏感度测定可检出混合细胞群中 1%的微量细胞。结论 :STR系统HUMCSF1PO、HUMTPOX、HUMTH0 1三位点多重PCR并银染检测技术可用于个体识别、亲子鉴定、Allo HSCT后嵌合状态及脐血之母血污染的检测。

Objective:To find a simple?effective method for individual identification and study its clinical application.Methods:The multiple polymerase chain reaction (PCR) amplification of the short tandem repeats(STR) HUMCSF1PO?HUMTPOX?HUMTH01 loci followed by denaturing electrophoresis and silver staning was used to study the genotypes of the unrelated individuals?2 generation Glanzmann' thrombasthenia (GT) families?five patients before and after allogeneic hematopoietic stem cell transplantation(Allo HSCT) and their donors?the umbilical cord blood and its corresponding mothers and fetals.Results:The unrelated individuals were distinguished easily from one another.Mendelian behavior was showed in all the 2 generation families.Five patients after Allo HSCT were all detected as complete chimerism(CC).The genotypes of the umbilical cord blood were as same as the fetals. Furthermore, the limit of detection of the minor component in a mixture was 1%.Conclusions:The multiple PCR amplification of the STR HUMCSF1PO?HUMTPOX?HUMTH01 loci followed can developed as a routine test for individual indentification, paternity determination, detection of post-transplantation chimerism and the contamination of the umbilical cord blood by maternal blood.