精子发生障碍患者精蛋白基因5′端及3′端核基质结合区的研究

The study on matrix attachment region (MAR) at 5 prime and 3 prime end of protamime genes

运用PCR、PCR -SSCP、PCR产物直接测序等方法对 6 1例少精子症及无精子症患者的精蛋白基因 5′端及 3′端核基质结合区 (Matrixattachmentregion ,MAR)进行了突变筛查。结果发现 2例少精子患者在 5′端核基质结合区存在PCR -SSCP带型变异 。

Mutational search at 5 prime terminus and 3 prime terminus matrix attachment region (MAR) of human protamine genes was performed by using PCR,PCR?SSCP and direct PCR produts sequencing.The results showed that 2 out of 61 oligo azoospermia patients had a different PCR-SSCP band pattern.Direct sequencing of the PCR products found that there is a heterozygous change at a nucleotide position in the sequence.