建立鼠胚着床前诊断模型的初步研究

The use of restriction site polymorphism analysis for the diagnosis of familial hypercholesterolemia.

目前严重的先天出生缺陷影响与威胁着１３．０７‰的新生儿，其中大部分是遗传病。产前诊断作为预防出生缺陷的手段对优生起着重要作用。但也不能忽视妊娠早期作出诊断，尤其是采用人工授精（ａｒｔｉｆｉｃｉａｌｉｎｓｅｍｉｎａｔｉｏｎ，ＡＩ）辅助妊娠的夫妇。国外在...

A 5 0 kb fragment was amplified by long chain PCR. The digestion of restriction enzyme showed that the fragment was DNA sequences form exon 15 to exon 16 of the human LDL receptor gene. A representstive FH family was indentified by the analysis of PvuⅡ polymorphism at intron 15. This protocol may be useful for the diagnosis of FH if PvuⅡ polymorphism cosegregates with the FH phenotype.