Transmission of mitochondrial DNA heteroplasmy in normal pedigrees

Christopher Gocke, Floyd A. Benko, Peter K. Rogan

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)182-186
Number of pages5
JournalHuman Genetics
Volume102
Issue number2
DOIs
StatePublished - 1998
Externally publishedYes

Fingerprint

Pedigree
Mitochondrial DNA
Intergenic DNA
Cytosine
Electron Transport Complex IV
Thymidine
Genotype
Mothers
Polymerase Chain Reaction
Grandparents

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Transmission of mitochondrial DNA heteroplasmy in normal pedigrees. / Gocke, Christopher; Benko, Floyd A.; Rogan, Peter K.

In: Human Genetics, Vol. 102, No. 2, 1998, p. 182-186.

Research output: Contribution to journalArticle

Gocke, Christopher ; Benko, Floyd A. ; Rogan, Peter K. / Transmission of mitochondrial DNA heteroplasmy in normal pedigrees. In: Human Genetics. 1998 ; Vol. 102, No. 2. pp. 182-186.
@article{7c46ddd09f264f609ac0f767cb06962a,
title = "Transmission of mitochondrial DNA heteroplasmy in normal pedigrees",
abstract = "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.",
author = "Christopher Gocke and Benko, {Floyd A.} and Rogan, {Peter K.}",
year = "1998",
doi = "10.1007/s004390050674",
language = "English (US)",
volume = "102",
pages = "182--186",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - Transmission of mitochondrial DNA heteroplasmy in normal pedigrees

AU - Gocke, Christopher

AU - Benko, Floyd A.

AU - Rogan, Peter K.

PY - 1998

Y1 - 1998

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0031924557&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031924557&partnerID=8YFLogxK

U2 - 10.1007/s004390050674

DO - 10.1007/s004390050674

M3 - Article

C2 - 9521586

AN - SCOPUS:0031924557

VL - 102

SP - 182

EP - 186

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 2

ER -