Variable levels of a heteroplasmic point mutation in individual hair roots
Variable levels of a heteroplasmic point mutation in individual hair roots
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DOI：
10.1086/301636
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发表时间：
1997-12-01
影响因子：
9.8
通讯作者：
Sykes, BC
中科院分区：
文献类型：
--
作者：
Bendall, KE;Macaulay, VA;Sykes, BC
在人类线粒体控制区的第一个高变段的直接测序过程中，我们发现了一个在nt 16256处具有异质性点突变的个体。我们使用引物延伸分析的比例，每个线粒体单倍型在外周血，口腔细胞，和单毛根从这个人，从他的母系血统的八个成员。仅在三个个体中发现了显著水平的异质性，并且在这些情况下，血液和口腔细胞中每个单倍型的比例相似。从母亲-后代对中线粒体单倍型的变化，我们计算出发育过程中线粒体瓶颈的最可能大小是1-27个分离单位。然而，高度可变的异质性水平被发现在单一的毛根，甚至在同一个人的根。我们分析了来自同一个体的大量发根，发现在不同的发根中，一种单倍型的比例在9%到>99%的范围内。起源于一小片皮肤内的根的单倍型比例与来自皮肤不同区域的根的单倍型比例一样可变。
During direct sequencing of the first hypervariable segment of the human mitochondrial control region, we identified one individual with a heteroplasmic point mutation at nt 16256. We used primer extension to analyze the proportions of each mitochondrial haplotype in peripheral blood, buccal cells, and single hair roots from this individual and from eight members of his maternal lineage. Significant levels of heteroplasmy were found in only three individuals, and, in these cases, the proportions of each haplotype were similar in both blood and buccal cells. From the changes in mitochondrial haplotypes within mother-offspring pairs, we calculated that the most likely size of a mitochondrial bottleneck during development was 1-27 segregating units. However, highly variable levels of heteroplasmy were found in single hair roots, even among roots from the same individual. We analyzed a large number of hair roots from one individual and found that the proportion of one haplotype was within a range of 9% to >99% in different roots. Roots originating from within a small patch of skin had haplotype proportions as variable as those from different areas of skin.