Mitochondrial DNA Sequencing

In 1981, the first human mitochondrial DNA (mtDNA) sequence,
the Cambridge Reference Sequence (CRS), was published. Subsequent sequencing of other individual's mitochondrial genomes revealed substantial differences to the CRS. This led to the development of mtDNA sequencing for the purpose of genealogical and forensic applications. Since mtDNA is only transmitted maternally, it is often used to trace or identify individual's maternal lineage. The advantage of mtDNA test is that mitochondrial genome is present at high copy numbers in each cell, and is thus relatively easy to obtain enough DNA from limited amount of samples. Lack of recombination and relatively high mutation rate compared to nuclear DNA also makes mtDNA an ideal marker for genetic identification. Based on sequence variations, mtDNA can be classified into different haplogroups. This has helped scientists formulated human migration pattern during early evolution.

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Sequencing of mtDNA hyper variable regions is relatively strait forward. However, several high GC, c-stretch and repetitive regions in certain individuals make mtDNA difficult to sequence, and often require multiple rounds sequencing reactions to obtain unambiguous reads. Below are examples of variations among individual's control regions.

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C-stretch in HV1

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C-stretch in HV2

We offer DNA isolation (from buccal swab, saliva, blood), PCR amplification, and sequencing of either HV 1-3 or whole mitochondrial genome. Please send inquiry to for price quote and additional information (email preferred).

alpha bioLaboratory, Inc.
19630 Allendale Ave. #3656
Saratoga CA 95070
Tel: 650-235-5636
Fax: 650-989-4061