This thesis describes a search for DNA polymorphisms at the HEXA locus as well as the characterization of three Tay-Sachs disease (TSD) mutations in the Chinese population. / No polymorphisms were detected in the HEXA gene by three different methods: (1) Southern blotting; (2) PCR amplification and restriction enzyme digestion of intronic sequences; (3) single strand conformational polymorphism (SSCP) analysis of introns. The apparent deficiency of accessible polymorphisms is a handicap in studying the origin, distribution, and frequency of mutant HEXA alleles in human populations. / I have characterized five of six infantile TSD alleles segregating in three unrelated Chinese families in which there is no known consanguinity. Two of the mutations described are novel, the third is a transition previously reported in an Italian patient (Nakano et al, 1988). / The two novel mutations occur in homozygous form in the affected individuals investigated. They are: (1) an insertion of an A at nucleotide 547 (Family 1) and (2) a T1453C transition (Family 2). (Abstract shortened by UMI.)

Thesis. / eContent provider-neutral record in process. Description based on print version record.

Thesis (Ph. D.)--University of Oregon, 2004. / Typescript. Includes vita and abstract. Includes bibliographical references (leaves 153-168). Also available for download via the World Wide Web; free to University of Oregon users.

Thesis (Ph. D.)--University of Tartu, 2004. / Includes reprints of 4 previously published articles. Includes bibliographical references (p. 48-59).

Thesis (Ph. D.)--University of Michigan, 1984. / Includes bibliographical references.

Thesis (Ph. D.)--University of California, Berkeley, 1986. / Includes bibliographies.

Thesis.

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No description available.

Population genetics studies, coupling genealogical and genetic information, are being launched in many places around the world. Examples include commercial projects, scientific inquiries into the determinants of disease, efforts to better understand healthcare needs, and attempts to trace the histories of groups. Two such studies have been launched in Iceland and Quebec. One of the motives for the creation of and participation in these projects is a personal interest in learning about one's genetic lineage and a collective pride in a putative national genetic identity. In this thesis I will be examining how new genetic information has been drawn into claims of national identity and how genetic technologies have been used to create imagined genetically homogenous communities.