Characterization of Mitochondrial DNA Sequence Heteroplasmy in Blood Tissue and Hair as a Function of Hair Morphology* ,†,‡
Katherine A. Roberts Ph.D.,
Cassandra Calloway Ph.D,
Katherine A. Roberts Ph.D.
School of Criminal Justice and Criminalistics, 1800 Paseo Rancho Castilla, California State University, Los Angeles, Los Angeles, CA 90032.
Search for more papers by this authorCassandra Calloway Ph.D
Children’s Hospital Oakland Research Institute, 5700 Martin Luther King Jr. Way, Oakland, CA 94609.
University of California, Berkeley, Comparative Biochemistry, 324 Barker Hall, MC#7354 Berkeley, CA 94720.
Search for more papers by this authorKatherine A. Roberts Ph.D.,
Cassandra Calloway Ph.D,
Katherine A. Roberts Ph.D.
School of Criminal Justice and Criminalistics, 1800 Paseo Rancho Castilla, California State University, Los Angeles, Los Angeles, CA 90032.
Search for more papers by this authorCassandra Calloway Ph.D
Children’s Hospital Oakland Research Institute, 5700 Martin Luther King Jr. Way, Oakland, CA 94609.
University of California, Berkeley, Comparative Biochemistry, 324 Barker Hall, MC#7354 Berkeley, CA 94720.
Search for more papers by this authorAdditional information and reprint requests:Katherine A. Roberts, Ph.D.School of Criminal Justice and CriminalisticsHertzberg-Davis Forensic Science Center1800 Paseo Rancho CastillaCalifornia State University, Los AngelesLos Angeles, CA 90032E-mail: [email protected]
†
Presented in part as a poster at the 18th International Symposium on Human Identification, October 1–4, 2007, in Hollywood, CA.
‡
Supported in part by the E. Reed and Virginia McLaughlin Endowment Fund (CAC) and by Grant Number (199615CX0028) awarded by the National Institute of Justice, Office of Justice Programs, U.S. Department of Justice to R.R., C.C. and H.E.
§
Points of view in this document are those of the authors and do not necessarily represent the official position or policies of the U.S. Department of Justice.
Abstract
Abstract: This study characterizes mitochondrial DNA (mtDNA) sequence heteroplasmy in blood tissue and hair as a function of hair morphology. Bloodstains (127 individuals) and head hairs (128 individuals) were typed using the mtDNA LINEAR ARRAY™ assay. A total of 1589 hairs were interpreted: 1478 (93%) were homoplasmic and 111 (7%) exhibited heteroplasmy at one or more positions. Seventy-one percent (82/116) of individuals were homoplasmic, whereas 29% (34/116) exhibited heteroplasmy in at least one hair. The results demonstrate intra- and inter-tissue differences in heteroplasmy within individuals. Sequence heteroplasmy among hairs from each individual varied from 0 to 90%; the frequency does not differ significantly with population group, cosmetic treatment, age, gender, medulla morphology, region of the scalp, hair growth phase, or, when comparing living and deceased donors. However, the results support a correlation between heteroplasmy and hair pigmentation; typically, lighter-pigmented hairs exhibit a higher incidence of sequence heteroplasmy compared to darker hairs.
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