Detection of heteroplasmy in human head hair and bloodstains using a mitochondrial DNA linear array assay.
Item
-
Title
-
Detection of heteroplasmy in human head hair and bloodstains using a mitochondrial DNA linear array assay.
-
Identifier
-
AAI3063874
-
identifier
-
3063874
-
Creator
-
Roberts, Katherine Anne.
-
Contributor
-
Adviser: Peter De Forest
-
Date
-
2002
-
Language
-
English
-
Publisher
-
City University of New York.
-
Subject
-
Biology, Genetics | Biology, Molecular
-
Abstract
-
This study examines mitochondrial DNA polymorphisms in human head hair and bloodstains with respect to their potential for forensic application. Mitochondrial DNA was isolated and polymorphisms were detected by applying sequence-specific oligonucleotide probe analysis, a technique that provides objective, timely and cost-effective results. The particular focus was to further the understanding of the factors that influence the condition and detection of heteroplasmy in human head hair.;131 bloodstains and 2551 head hairs from 132 individuals from four population groups were amplified. Amplification success was assessed as a function of several independent variables. The findings indicate that the overall success rate is independent of hair growth phase, donor age, use of cosmetic hair treatments, medulla structure, or whether the donor is living or deceased. However, the race of the donor, the length of the hair sample and the pigmentation of the hair shaft all affect the success rate.;Samples that successfully amplified were typed using a mitochondrial DNA linear array assay. The genetic diversity value for each population group was analyzed and the frequency of each mtDNA haplotype was determined. The results of this study demonstrate differences in heteroplasmic expression between tissues. Of the 132 individuals typed, 5 exhibit heteroplasmy in their blood samples and 38 show evidence of heteroplasmy in at least one hair sample. Each of the 5 individuals with heteroplasmic blood also exhibits heteroplasmy in at least one hair. For the remaining 33 individuals, the heteroplasmic condition is found exclusively in the hair tissue.;The findings show that the frequency of heteroplasmy differs across racial population groups and is higher in the Caucasian population. A chi 2 test for independence indicates that this is statistically significant at P > 0.005. The data also reflect that the frequency of heteroplasmy does not differ significantly with age, sex, medulla morphology, region of the scalp, hair growth or, when comparing living and deceased donors.
-
Type
-
dissertation
-
Source
-
PQT Legacy CUNY.xlsx
-
degree
-
Ph.D.
