The mutation rate of the human mtDNA deletion mtDNA{sup 4977}

Journal Article · Tue Oct 01 04:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:476747

Shenkar, R ^[1]; Navidi, W ^[2]; Tavare, S ^[3]

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1. Univ. of Colorado Health Science Center, Denver, CO (United States)
2. Colorado School of Mines, Golden, CO (United States)
3. Univ. of California, Los Angeles, CA (United States); and others

The human mitochondrial mutation mtDNA{sup 4977} is a 4,977-bp deletion that originates between two 13-bp direct repeats. We grew 220 colonies of cells, each from a single human cell. For each colony, we counted the number of cells and amplified the DNA by PCR to test for the presence of a deletion. To estimate the mutation rate, we used a model that describes the relationship between the mutation rate and the probability that a colony of a given size will contain no mutants, taking into account such factors as possible mitochondrial turnover and mistyping due to PCR error. We estimate that the mutation rate for mtDNA{sup 4977} in cultured human cells is 5.95 x 10{sup {minus}8} per mitochondrial genome replication. This method can be applied to specific chromosomal, as well as mitochondrial, mutations. 17 refs., 1 fig., 1 tab.

• OSTI ID: 476747
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 59; ISSN 0002-9297; ISSN AJHGAG
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DNA
DNA HYBRIDIZATION
DNA REPLICATION
DNA SEQUENCING
DNA-CLONING
FIBROBLASTS
MITOCHONDRIA
MUTATION FREQUENCY
MUTATIONS
NUCLEOTIDES
POLYMERASE CHAIN REACTION
STATISTICAL MODELS