Gocke C D, Benko F A, Rogan P K
Department of Pathology, Pennsylvania State University College of Medicine, Hershey 17033, USA.
Hum Genet. 1998 Feb;102(2):182-6. doi: 10.1007/s004390050674.
The presence of multiple mitochondrial genotypes (heteroplasmy) has been studied in normal individuals. Six multigenerational normal families were screened for heteroplasmy by PCR of the mitochondrial control region and the cytochrome c oxidase intergenic regions. Two individuals from different families exhibited multiple length polymorphisms in a homopolymeric tract at positions 16184-16193 and a grandmother in a third family was heteroplasmic for both cytosine and thymidine at position 15945. Although the 15945 T variant comprised 28% of the grandmother's mitochondrial DNA, this sequence was not present in any of her descendants. Heteroplasmy was detected in 2.5% of the 96 mother-offspring pairs, consistent with the possibility that it may not be rare.
在正常个体中已对多种线粒体基因型（异质性）的存在情况进行了研究。通过对线粒体控制区和细胞色素c氧化酶基因间区域进行聚合酶链反应（PCR），对六个多代均正常的家庭进行了异质性筛查。来自不同家庭的两名个体在16184 - 16193位的同聚物区域表现出多个长度多态性，并且第三个家庭中的一位祖母在15945位的胞嘧啶和胸腺嘧啶均存在异质性。尽管15945 T变体占该祖母线粒体DNA的28%，但此序列在她的任何后代中均未出现。在96对母婴对中有2.5%检测到异质性，这与异质性可能并不罕见的可能性相符。
