Length heteroplasmy in the first hypervariable segment of the human mtDNA control region.
Length heteroplasmy in the first hypervariable segment of the human mtDNA control region.
复制标题
人类 mtDNA 控制区第一个高变片段的长度异质性。
DOI：
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发表时间：
1995
影响因子：
9.8
通讯作者：
Bryan C. Sykes
中科院分区：
文献类型：
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作者：
K. Bendall;Bryan C. Sykes
根据剑桥参考序列，人类 mtDNA 控制区的第一个高变片段包含 nt 16184 和 16193 之间的胞嘧啶均聚物链，在位置 16189 处被胸腺嘧啶中断。群体筛选中常见的一个变体是 nt 16189 处的 T 到 C 转变，从而产生不间断的同聚束。对具有这种变异的个体进行直接测序会在纤维束外的核苷酸中产生特征性模糊序列。对这些个体的克隆进行测序表明，这是由同聚束中高水平的长度异质性和该束后的四个腺嘌呤中的低水平长度异质性引起的。我们开发了一种快速方法，涉及测序凝胶的密度测定，以量化个体中存在的不同长度变异的相对比例。我们用它来研究来自三对双胞胎和两个母系血统的个体的长度变异的比例。虽然无亲缘关系的个体通常具有不同比例的长度变异，但所有研究的母系相关个体都具有相同的比例，即使它们只是远亲。目前尚不清楚母系相关个体中如何保持相同的异质性特征，但提出了一些可能的机制。
The first hypervariable segment of the human mtDNA control region contains a homopolymeric tract of cytosines between nt 16184 and 16193, interrupted at position 16189 by a thymine, according to the Cambridge reference sequence. A variant commonly found in population screening is a T-to-C transition at nt 16189, resulting in an uninterrupted homopolymeric tract. Direct sequencing of individuals with this variant produces a characteristic blurred sequence in nucleotides beyond the tract. Sequencing clones from these individuals revealed that this is caused by high levels of length heteroplasmy in the homopolymeric tract and low levels of length heteroplasmy in the four adenines following the tract. We have developed a rapid method involving densitometry of sequencing gels to quantify the relative proportions of different length variants present in an individual. We have used this to study the proportions of length variants in individuals from three twin pairs and two maternal lineages. While unrelated individuals usually have different proportions of length variants, all maternally related individuals studied have the same proportions, even if they are only distantly related. It is not obvious how identical heteroplasmic profiles are maintained in maternally related individuals, but some possible mechanisms are suggested.
影响因子：
14.9
作者：
ASHLEY, MV;LAIPIS, PJ;HAUSWIRTH, WW
通讯作者：
HAUSWIRTH, WW
影响因子：
14.9
作者：
HAUSWIRTH, WW;CLAYTON, DA
通讯作者：
CLAYTON, DA