mtDNA HVI length heteroplasmic profile in different tissues of maternally related members

被引：9

作者：

Bini, C ^{[1
]}

Pappalardo, G ^{[1
]}

机构：

[1] Univ Bologna, Dept Med & Publ Hlth, Sect Legal Med, I-40126 Bologna, Italy

来源：

FORENSIC SCIENCE INTERNATIONAL | 2005年 / 152卷 / 01期

关键词：

mitochondrial DNA; sequencing; length heteroplasmy; C-stretch;

D O I：

10.1016/j.forsciint.2005.03.006

中图分类号：

DF [法律]; D9 [法律]; R [医药、卫生];

学科分类号：

0301 ; 10 ;

摘要：

Sequencing of the homopolymeric tract of cytosines (C-stretch) in human mitochondrial HVI region usually results in a blurred pattern beyond it when a T/C transition at nt 16189 occurs: it depends on a length heteroplasmy probably arising through a replication slippage. This study aims to investigate the distribution of heteroplasmic length variants within three related individuals along maternal lineage by cloning approach. Sequencing of multiple independent clones (12-14) is sufficient to yield heteroplasmic profiles. In addition, we illustrate a direct correlation between expansion of heteroplasmy modal length and reduction of the number of adenines preceding the homopolymeric tract; this association may be useful in pedigree analysis and in forensic field for tissues comparison, single hair sample included. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

引用

页码：35 / 38

页数：4

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