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New developments in Microsatellite Genotyping and Genetic Epidemiological studies

New developments in Microsatellite Genotyping and Genetic Epidemiological studies
New developments in Microsatellite Genotyping and Genetic Epidemiological studies

For genotyping tetranucleotide repeat microsatellite markers for use in association studies, I have developed a high throughput methodology permitting parallel analysis of 100-1000 subjects, using short-track MADGE gel (Microplate Array Diagonal Gel Electrophoresis). A series of procedures to maximize resolution and validate genotypes of tetranucleotide-repeat markers is described, as initially developed and applied to HUMTH01, a tetranucleotide microsatellite marker in the human tyrosine hydroxylase gene. I have used the method to examine several microsatellite markers in several large cohorts and analyzed the frequency distribution of alleles and genotypes of HUMTH01 in the large cohorts. I have also applied the newly developed system to genetic analysis of population stratification and genetic epidemiological studies of complex trait diseases, hypertension and obesity. Association analysis of the HUMTH01 marker with the diseases demonstrated that none of the variations of HUMTH01 is likely to be associated with hypertension (p>0.05) but genotype 260/260 (D/D) shows a strong association with low mean body weight (p=0.001) in a cohort of 1618 middle-aged males. Using the same five-marker Y-haplotypes, which include two Y-specific microsatellites and three Y-specific SNP markers in 2600 geographically dispersed subjects in UK. The haplotype analysis confirmed that 2600 males show genotype distributions comparable to other Caucasian populations studied by other groups. There is no significant difference in frequency distribution of the common Y-haplotypes among the geographic locations and nor in cross-tabulation against frequency distribution of HUMTH01 genotypes.

University of Southampton
Chen, Xiao-he
fd93b896-d8cc-4b0e-a811-c0e6a8ff8308
Chen, Xiao-he
fd93b896-d8cc-4b0e-a811-c0e6a8ff8308

Chen, Xiao-he (2001) New developments in Microsatellite Genotyping and Genetic Epidemiological studies. University of Southampton, Doctoral Thesis.

Record type: Thesis (Doctoral)

Abstract

For genotyping tetranucleotide repeat microsatellite markers for use in association studies, I have developed a high throughput methodology permitting parallel analysis of 100-1000 subjects, using short-track MADGE gel (Microplate Array Diagonal Gel Electrophoresis). A series of procedures to maximize resolution and validate genotypes of tetranucleotide-repeat markers is described, as initially developed and applied to HUMTH01, a tetranucleotide microsatellite marker in the human tyrosine hydroxylase gene. I have used the method to examine several microsatellite markers in several large cohorts and analyzed the frequency distribution of alleles and genotypes of HUMTH01 in the large cohorts. I have also applied the newly developed system to genetic analysis of population stratification and genetic epidemiological studies of complex trait diseases, hypertension and obesity. Association analysis of the HUMTH01 marker with the diseases demonstrated that none of the variations of HUMTH01 is likely to be associated with hypertension (p>0.05) but genotype 260/260 (D/D) shows a strong association with low mean body weight (p=0.001) in a cohort of 1618 middle-aged males. Using the same five-marker Y-haplotypes, which include two Y-specific microsatellites and three Y-specific SNP markers in 2600 geographically dispersed subjects in UK. The haplotype analysis confirmed that 2600 males show genotype distributions comparable to other Caucasian populations studied by other groups. There is no significant difference in frequency distribution of the common Y-haplotypes among the geographic locations and nor in cross-tabulation against frequency distribution of HUMTH01 genotypes.

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Published date: 2001

Identifiers

Local EPrints ID: 464487
URI: http://eprints.soton.ac.uk/id/eprint/464487
PURE UUID: 89a0990f-9091-402e-8f03-4e334afbfc3b

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Date deposited: 04 Jul 2022 23:41
Last modified: 23 Jul 2022 02:07

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Author: Xiao-he Chen

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