论文部分内容阅读
进行性肌营养不良症（Ｄｕｃｈｅｎｎｅｍｕｓｃｕｌａｒｄｙｓｔｒｏｐｙ），是一种较常见的Ｘ－连锁隐性遗传致死性疾病。本文采用１８对引物－Ａ、Ｂ两套ＰＣＲ多重反应体系，对我院３７例ＤＭＤ患者进行基因缺失检测，其中有１９例患者不同区域的缺失。其中有２例患者，虽无亲缘关系但缺失的外显子完全相同，无法确定，有待对其家系应用Ｓｏｕｔｈｅｒｎ的方法进一步确定其缺失区域。其中１３／１７例缺失４５－５２号外显子，８／１３例均有４８号外显子的缺失，与国内外文献报道完全一致。在这１９例缺失患者中，有１例患者原先用６对引物只检测出３个外显子的缺失，经用１８对引物后检测为１２－４４外显子的缺失。另１例患者应用６对引物未检测出缺失，经用１８对引物后检测出了和４４号外显子的缺失。从这两个病例可以看出，应用１８对引物可以更准确地检测出缺失患者，使检测缺失率达到９８％以上。因此为ＤＭＤ患者的产前诊断提供更精确的依据。
Duchenne muscular dystrophy is a more common X-linked recessive hereditary fatal disease. In this study, 18 pairs of primers-A, B two sets of PCR multiplex reaction system, 37 cases of our hospital DMD gene deletion detection, of which 19 cases were missing in different regions. Two of these patients, though unrelated but lacking the same exon, could not be identified. Southern families were yet to determine their missing regions for their families. There were 13/17 exon 45-52 deletions and 8/13 exon 48 deletions, all of which were completely consistent with those reported in domestic and foreign literature. Of the 19 missing patients, only one of the 19 patients detected a deletion of three exons with 6 pairs of primers and a 12-44 exon deletion with 18 pairs of primers. The other 1 patient did not detect any loss using 6 pairs of primers, and deletion of exon 44 was detected with 18 pairs of primers. It can be seen from these two cases that the application of 18 pairs of primers can detect missing patients more accurately and make the detection loss rate reach over 98%. This provides a more accurate basis for the prenatal diagnosis of DMD patients.