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Identifier	000345920
Title	Μοριακή διερεύνηση της δομής του γονιδίου και των μεταλλάξεων της νόσου Huntington στον άνθρωπο
Author	Καρτσάκη, Ελεονώρα
Thesis advisor	Πλαίτάκης, Ανδρέας
Reviewer	Μοσχονάς, Νικόλαος Αναγνου, Νικόλαος Λιονής, Χρήστος Ζαχαρίου, Βάνα Γουλιέλμος, Γιώργος
Abstract	HD families in which late onset occurs consistently in affected members are rare. The objectives of this work were to study such late-onset HD families encountered on Crete, and to trace their genetic origin. Nine late-onset HD kindreds (61 affected members) were studied along with two typical HD families (17 affected members). We genotyped 33 late-onset Cretan HD chromosomes, 9 Cretan typical HD chromosomes and 114 Cretan control chromosomes using 14 STR markers and 20 SNPs that map to 4p16.3. In contrast to the typical HD pedigrees, the late-onset HD families lacked anticipation and juvenile cases. The expanded CAG repeat (36-42 units) in these families remained either stable or it showed small increment instability, even when transmitted through the father. All late-onset HD chromosomes shared a conserved haplotype defined by the markers D4S95:1090-D4S127:157-rs362277:A-rs3025814:G-rs2530596:A that span a 0.277 Mb segment on 4p16.3. Coalescence analysis traced this haplotype to a founder who lived about 1,000 years ago. In contrast, each of the two typical HD disease pedigrees derived from a different founder. Sequencing of a 5-Kb DNA segment immediately upstream of the HD gene revealed a novel single nucleotide polymorphism at –1757 bp relative to translation start site, which was more prevalent in Cretan than in North American chromosomes. All late-onset HD families on Crete arose from a common founder with the disease’s mutation evolving over the centuries via small-increment instability. These findings suggest that cis-acting factors may be operational.
Language	Greek
Subject	Huntington Disease
Issue date	2007-07-26
Collection	School/Department--School of Medicine--Department of Medicine--Doctoral theses
	Type of Work--Doctoral theses
Permanent Link	https://elocus.lib.uoc.gr//dlib/2/7/f/metadata-dlib-088e00d21859b9393edb3f91aaa07bd3_1243846089.tkl
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