Genetic characterization of the Y -chromosome specific minisatellite, MSY1, in a multi-cultural population of New York City.
Item
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Title
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Genetic characterization of the Y -chromosome specific minisatellite, MSY1, in a multi-cultural population of New York City.
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Identifier
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AAI3074629
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identifier
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3074629
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Creator
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Buffolino, Pasquale.
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Contributor
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Adviser: Lawrence Kobilinsky
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Date
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2003
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Language
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English
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Publisher
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City University of New York.
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Subject
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Biology, Genetics
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Abstract
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Minisatellite variant repeat mapping by PCR (MVR-PCR) has revealed a high degree of allelic variability at the single Y-chromosomal minisatellite locus, MSY1. MVR-PCR assays both the allelic length variability and internal structural variability of MSY1. Modular structures representing the interspersion pattern of variant repeat units within MSY1 have offered far greater levels of discrimination as compared to the analysis of allelic length. MVR-PCR has been used to determine the structure of MSY1 and degree of code diversity in four major ethnic groups of New York City. 180 complete codes and 192 modular structures were defined in Caucasians, African Americans, Asians, and Hispanics. Code and structural diversity was calculated using Nei's unbiased estimator. Caucasians and African Americans displayed the highest levels of genetic diversity when compared to global MSY1 data. Asians and Hispanics were surpassed by a single British population. Defined structural characteristics were observed within the four populations. These characteristics were compared to previous studies. American Caucasians and Hispanics were found to be genetically similar to western Europeans. African Americans showed a striking resemblance to the interspersion of repeats and structural diversity observed in African populations. The highest 3:1:3:4 structural frequency was found in New York City Asians. This structure was not specific to this population, with relatively equal frequencies found in Caucasian (21.2%) and Hispanic (26.9%) populations. This correlates with previous data collected from all continents. Analysis of Molecular Variance (AMOVA) revealed a larger percent of within population (88.83%) than between-population (11.17%) genetic variance. Significant population differentiation was determined through F-statistics (FST = 0.11166) inferring population stratification with some gene flow between populations. The defined characteristics in New York City populations and degree of differentiation implies that the Y-chromosome is not as homogenized in urban populations as has been speculated.;A four-reaction semi-automated detection system was developed for the characterization of MSY1 in true forensic samples. In mixed samples, male specific DNA was detectable with as little as 2.5 ng of sperm cell DNA. A 72.9% amplification success rate was observed for postmortem bloodstains. Comparing this to a 97.2% amplification success rate observed in microsatellite analysis, the present study demonstrates the difficulties involved with the characterization of large minisatellite loci in forensic samples characterized by degradation and low concentrations of DNA. The power of discrimination of MSY1 is found to be greater than nine microsatellite loci combined. When combining both minisatellite and microsatellite data, all haplotypes in the present study were determined to be unique. The probative value of analyzing MSY1 for identification purposes is obvious. However, the method of detection must be validated and standardized before it can be accepted by the forensic community. The present study offers insights into the distribution of MSY1 in four major ethnic categories in United States forensic databases and its feasibility for application in forensic casework.
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Type
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dissertation
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Source
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PQT Legacy CUNY.xlsx
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degree
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Ph.D.
