Literature DB >> 9932738

Heteroplasmic substitutions in the mitochondrial DNA control region in mother and child samples.

J Hühne1, H Pfeiffer, B Brinkmann.   

Abstract

The sequences of the two hypervariable regions of the mitochondrial DNA control region (HV1 and HV2) from close maternal relatives (mother-child pairs) were compared to determine the frequency of mutations between two generations. A total of 68 blood samples were sequenced only in HVI and 86 were analysed for HV1 and HV2. The intergenerational comparison led to the identification of six heteroplasmic point mutations affecting the children only. In one case a heteroplasmy of the maternal sequence was resolved to homoplasmy in the corresponding sequence of the child.

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Year:  1998        PMID： 9932738     DOI： 10.1007/s004140050193

Source DB:  PubMed          Journal:  Int J Legal Med        ISSN： 0937-9827            Impact factor:   2.686


  11 in total

1.  Hypervariable sites in the mtDNA control region are mutational hotspots.

Authors:  M Stoneking
Journal:  Am J Hum Genet       Date:  2000-08-30       Impact factor: 11.025

2.  Natural radioactivity and human mitochondrial DNA mutations.

Authors:  Lucy Forster; Peter Forster; Sabine Lutz-Bonengel; Horst Willkomm; Bernd Brinkmann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-07       Impact factor: 11.205

3.  A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals.

Authors:  K Imaizumi; T J Parsons; M Yoshino; M M Holland
Journal:  Int J Legal Med       Date:  2002-04       Impact factor: 2.686

4.  Different methods to determine length heteroplasmy within the mitochondrial control region.

Authors:  Sabine Lutz-Bonengel; Timo Sänger; Stefan Pollak; Reinhard Szibor
Journal:  Int J Legal Med       Date:  2004-10       Impact factor: 2.686

5.  Mitochondrial DNA sequence variation in Jewish populations.

Authors:  A Picornell; P Giménez; J A Castro; M M Ramon
Journal:  Int J Legal Med       Date:  2006-05-18       Impact factor: 2.686

6.  Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings.

Authors:  S Lutz-Bonengel; U Schmidt; T Sänger; M Heinrich; P M Schneider; S Pollak
Journal:  Int J Legal Med       Date:  2008-05-14       Impact factor: 2.686

7.  Evaluating length heteroplasmy in the human mitochondrial DNA control region.

Authors:  Lucy Forster; Peter Forster; Susan M R Gurney; Matthew Spencer; Christopher Huang; Arne Röhl; Bernd Brinkmann
Journal:  Int J Legal Med       Date:  2010-03       Impact factor: 2.686

8.  Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region.

Authors:  Anita Brandstätter; Harald Niederstätter; Walther Parson
Journal:  Int J Legal Med       Date:  2004-01-09       Impact factor: 2.686

9.  Mitochondrial D-loop (CA)n repeat length heteroplasmy: frequency in a German population sample and inheritance studies in two pedigrees.

Authors:  Reinhard Szibor; Ines Plate; Marielle Heinrich; Mathias Michael; Rüdiger Schöning; Holger Wittig; Sabine Lutz-Bonengel
Journal:  Int J Legal Med       Date:  2006-04-28       Impact factor: 2.791

10.  Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity.

Authors:  Benedict G Tan; Frederick C Wellesley; Nigel J Savery; Mark D Szczelkun
Journal:  Nucleic Acids Res       Date:  2016-07-19       Impact factor: 16.971
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