Larsson N G, Eiken H G, Boman H, Holme E, Oldfors A, Tulinius M H
Department of Clinical Chemistry, University of Gothenburg, Sweden.
Am J Hum Genet. 1992 Feb;50(2):360-3.
We have investigated the daughter of a woman with Kearns-Sayre syndrome. The woman had a high percentage of deleted mtDNA in muscle, but no deleted mtDNA was detected in fibroblasts, bone marrow, and peripheral blood cells by Southern blot analysis. With PCR, analytical sensitivity was significantly increased, and deleted mtDNA was detected in all examined tissues from this patient. The patient had healthy parents and nine healthy siblings. No deleted mtDNA was detected in blood from the mother of the patient. The patient had an uneventful pregnancy and delivered at term. Deleted mtDNA could not be detected in placenta by Southern blot analysis. With PCR, deleted mtDNA was detected in the majority of placental specimens. This finding may, however, be due to contamination with maternal DNA. The patient's daughter was healthy at age 5 mo, and morphologic examination of muscle was normal. No transmission of deleted mtDNA to the daughter could be detected by Southern blot and PCR analysis of peripheral blood cells, bone marrow, fibroblasts, and muscle. The presence of deleted mtDNA was excluded at a fractional level of less than 1:100,000 in all examined tissues from the daughter.
我们对一名患有卡恩斯-塞尔综合征（Kearns-Sayre syndrome）女性的女儿进行了调查。该女性肌肉中缺失型线粒体DNA（mtDNA）的比例很高，但通过Southern印迹分析在其成纤维细胞、骨髓和外周血细胞中未检测到缺失型mtDNA。采用聚合酶链反应（PCR）后，分析灵敏度显著提高，在该患者所有检测的组织中均检测到了缺失型mtDNA。患者的父母健康，还有九个健康的兄弟姐妹。在患者母亲的血液中未检测到缺失型mtDNA。患者孕期顺利，足月分娩。通过Southern印迹分析在胎盘中未检测到缺失型mtDNA。采用PCR在大多数胎盘标本中检测到了缺失型mtDNA。然而，这一发现可能是由于母体DNA污染所致。患者的女儿在5个月大时身体健康，肌肉形态学检查正常。通过对外周血细胞、骨髓、成纤维细胞和肌肉进行Southern印迹和PCR分析，未检测到缺失型mtDNA传递给女儿。在女儿所有检测的组织中，缺失型mtDNA的存在比例被排除在低于1:100,000的水平。
